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652 results on '"Petit, Florence"'

151. Génétique de l'épigénétique chez les ovins

Author

Drouilhet, Laurence, Plisson-Petit, Florence, Marcon, Didier, Bouvier, Frédéric, Moreno-Romieux, Carole, Fabre, Stéphane, Hazard, Dominique, Génétique Physiologie et Systèmes d'Elevage (GenPhySE ), École nationale supérieure agronomique de Toulouse [ENSAT]-Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Domaine expérimental Bourges-La Sapinière (BOURGES), and Institut National de la Recherche Agronomique (INRA)

Subjects
[SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics, [SDV]Life Sciences [q-bio], [INFO]Computer Science [cs], ComputingMilieux_MISCELLANEOUS
Abstract

National audience

Published
2019

152. The radial expansion of the Diego blood group system polymorphisms in Asia: mark of co-migration with the Mongol conquests

Author

Petit, Florence, Minnai, Francesca, Chiaroni, Jacques, Underhill, Peter, BAILLY, Pascal, Mazières, Stéphane, Costedoat, Caroline, Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U837 (JPArc), Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Anthropologie bio-culturelle, Droit, Ethique et Santé (ADES), Aix Marseille Université (AMU)-EFS ALPES MEDITERRANEE-Centre National de la Recherche Scientifique (CNRS), UMR 6578 : Anthropologie Bio-Culturelle (UAABC), Université de la Méditerranée - Aix-Marseille 2-Centre National de la Recherche Scientifique (CNRS), Department of Genetics [Stanford], Stanford Medicine, Stanford University-Stanford University, Etablissement Français du Sang - Alpes-Méditerranée (EFS - Alpes-Méditerranée), Etablissement Français du Sang, APR 2016-11-MAZIERES-AM, European Project: 39631,ERASMUS, Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U1172 Inserm - U837 (JPArc), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Lille Nord de France (COMUE)-Université de Lille

Subjects
[SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, Evolutionary biology, Structural variation
Abstract

International audience; Red cell polymorphisms can provide evidence of human migration and adaptation patterns. In Eurasia, the distribution of Diego blood group system polymorphisms remains unaddressed. To shed light on the dispersal of the Di a antigen, we performed analyses of correlations between the frequencies of DI*01 allele, C2-M217 and C2-M401 Y-chromosome haplotypes ascribed as being of Mongolian-origin and language affiliations, in 75 Eurasian populations including DI*01 frequency data from the HGDP-CEPH panel. We revealed that DI*01 reaches its highest frequency in Mongolia, Turkmenistan and Kyrgyzstan, expanding southward and westward across Asia with Altaic-speaking nomadic carriers of C2-M217, and even more precisely C2-M401, from their homeland presumably in Mongolia, between the third century BCE and the thirteenth century CE. The present study has highlighted the gene-culture co-migration with the demographic movements that occurred during the past two millennia in Central and East Asia. Additionally, this work contributes to a better understanding of the distribution of immunogenic erythrocyte polymorphisms with a view to improve transfusion safety.

Published
2019
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153. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

Author

Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Verheije, Rosalind, Kupchik, Gabriel S., Isidor, Bertrand, Kroes, Hester Y., Lynch, Sally Ann, Hawkes, Lara, Hempel, Maja, Gelb, Bruce D., Ghoumid, Jamal, D’Amours, Guylaine, Chandler, Kate, Dubourg, Christèle, Loddo, Sara, Tümer, Zeynep, Shaw-Smith, Charles, Nizon, Mathilde, Shevell, Michael, Van Hoof, Evelien, Anyane-Yeboa, Kwame, Cerbone, Gaetana, Clayton-Smith, Jill, Cogné, Benjamin, Corre, Pierre, Corveleyn, Anniek, De Borre, Marie, Hjortshøj, Tina Duelund, Fradin, Mélanie, Gewillig, Marc, Goldmuntz, Elizabeth, Hens, Greet, Lemyre, Emmanuelle, Journel, Hubert, Kini, Usha, Kortüm, Fanny, Le Caignec, Cedric, Novelli, Antonio, Odent, Sylvie, Petit, Florence, Revah-Politi, Anya, Stong, Nicholas, Strom, Tim M., van Binsbergen, Ellen, Devriendt, Koenraad, Breckpot, Jeroen, DDD Study, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Verheije, Rosalind, Kupchik, Gabriel S., Isidor, Bertrand, Kroes, Hester Y., Lynch, Sally Ann, Hawkes, Lara, Hempel, Maja, Gelb, Bruce D., Ghoumid, Jamal, D’Amours, Guylaine, Chandler, Kate, Dubourg, Christèle, Loddo, Sara, Tümer, Zeynep, Shaw-Smith, Charles, Nizon, Mathilde, Shevell, Michael, Van Hoof, Evelien, Anyane-Yeboa, Kwame, Cerbone, Gaetana, Clayton-Smith, Jill, Cogné, Benjamin, Corre, Pierre, Corveleyn, Anniek, De Borre, Marie, Hjortshøj, Tina Duelund, Fradin, Mélanie, Gewillig, Marc, Goldmuntz, Elizabeth, Hens, Greet, Lemyre, Emmanuelle, Journel, Hubert, Kini, Usha, Kortüm, Fanny, Le Caignec, Cedric, Novelli, Antonio, Odent, Sylvie, Petit, Florence, Revah-Politi, Anya, Stong, Nicholas, Strom, Tim M., van Binsbergen, Ellen, Devriendt, Koenraad, Breckpot, Jeroen, and DDD Study

Published
2019

154. Complex Compound Inheritance of Lethal Lung Developmental Disorders due to Disruption of the TBX-FGF Pathway

Author

Karolak, Justyna A, Vincent, Marie, Deutsch, Gail, Gambin, Tomasz, Cogné, Benjamin, Pichon, Olivier, Vetrini, Francesco, Mefford, Heather C, Dines, Jennifer N, Golden-Grant, Katie, Dipple, Katrina, Freed, Amanda S, Leppig, Kathleen A, Dishop, Megan, Mowat, David, Bennetts, Bruce, Gifford, Andrew J, Weber, Martin A, Lee, Anna F, Boerkoel, Cornelius F, Bartell, Tina M, Ward-Melver, Catherine, Besnard, Thomas, Petit, Florence, Bache, Iben, Tümer, Zeynep, Denis-Musquer, Marie, Joubert, Madeleine, Martinovic, Jelena, Bénéteau, Claire, Molin, Arnaud, Carles, Dominique, André, Gwenaelle, Bieth, Eric, Chassaing, Nicolas, Devisme, Louise, Chalabreysse, Lara, Pasquier, Laurent, Secq, Véronique, Don, Massimiliano, Orsaria, Maria, Missirian, Chantal, Mortreux, Jérémie, Sanlaville, Damien, Pons, Linda, Küry, Sébastien, Bézieau, Stéphane, Liet, Jean-Michel, Joram, Nicolas, Bihouée, Tiphaine, Scott, Daryl A, Brown, Chester W, Scaglia, Fernando, Tsai, Anne Chun-Hui, Grange, Dorothy K, Phillips, John A, Pfotenhauer, Jean P, Jhangiani, Shalini N, Gonzaga-Jauregui, Claudia G, Chung, Wendy K, Schauer, Galen M, Lipson, Mark H, Mercer, Catherine L, van Haeringen, Arie, Liu, Qian, Popek, Edwina, Coban Akdemir, Zeynep H, Lupski, James R, Szafranski, Przemyslaw, Isidor, Bertrand, Le Caignec, Cedric, Stankiewicz, Paweł, Karolak, Justyna A, Vincent, Marie, Deutsch, Gail, Gambin, Tomasz, Cogné, Benjamin, Pichon, Olivier, Vetrini, Francesco, Mefford, Heather C, Dines, Jennifer N, Golden-Grant, Katie, Dipple, Katrina, Freed, Amanda S, Leppig, Kathleen A, Dishop, Megan, Mowat, David, Bennetts, Bruce, Gifford, Andrew J, Weber, Martin A, Lee, Anna F, Boerkoel, Cornelius F, Bartell, Tina M, Ward-Melver, Catherine, Besnard, Thomas, Petit, Florence, Bache, Iben, Tümer, Zeynep, Denis-Musquer, Marie, Joubert, Madeleine, Martinovic, Jelena, Bénéteau, Claire, Molin, Arnaud, Carles, Dominique, André, Gwenaelle, Bieth, Eric, Chassaing, Nicolas, Devisme, Louise, Chalabreysse, Lara, Pasquier, Laurent, Secq, Véronique, Don, Massimiliano, Orsaria, Maria, Missirian, Chantal, Mortreux, Jérémie, Sanlaville, Damien, Pons, Linda, Küry, Sébastien, Bézieau, Stéphane, Liet, Jean-Michel, Joram, Nicolas, Bihouée, Tiphaine, Scott, Daryl A, Brown, Chester W, Scaglia, Fernando, Tsai, Anne Chun-Hui, Grange, Dorothy K, Phillips, John A, Pfotenhauer, Jean P, Jhangiani, Shalini N, Gonzaga-Jauregui, Claudia G, Chung, Wendy K, Schauer, Galen M, Lipson, Mark H, Mercer, Catherine L, van Haeringen, Arie, Liu, Qian, Popek, Edwina, Coban Akdemir, Zeynep H, Lupski, James R, Szafranski, Przemyslaw, Isidor, Bertrand, Le Caignec, Cedric, and Stankiewicz, Paweł

Abstract

Primary defects in lung branching morphogenesis, resulting in neonatal lethal pulmonary hypoplasias, are incompletely understood. To elucidate the pathogenetics of human lung development, we studied a unique collection of samples obtained from deceased individuals with clinically and histopathologically diagnosed interstitial neonatal lung disorders: acinar dysplasia (n = 14), congenital alveolar dysplasia (n = 2), and other lethal lung hypoplasias (n = 10). We identified rare heterozygous copy-number variant deletions or single-nucleotide variants (SNVs) involving TBX4 (n = 8 and n = 2, respectively) or FGF10 (n = 2 and n = 2, respectively) in 16/26 (61%) individuals. In addition to TBX4, the overlapping ∼2 Mb recurrent and nonrecurrent deletions at 17q23.1q23.2 identified in seven individuals with lung hypoplasia also remove a lung-specific enhancer region. Individuals with coding variants involving either TBX4 or FGF10 also harbored at least one non-coding SNV in the predicted lung-specific enhancer region, which was absent in 13 control individuals with the overlapping deletions but without any structural lung anomalies. The occurrence of rare coding variants involving TBX4 or FGF10 with the putative hypomorphic non-coding SNVs implies a complex compound inheritance of these pulmonary hypoplasias. Moreover, they support the importance of TBX4-FGF10-FGFR2 epithelial-mesenchymal signaling in human lung organogenesis and help to explain the histopathological continuum observed in these rare lethal developmental disorders of the lung.

Published
2019

155. Two Lmx1b-associated cis-regulatory modules (LARM1/2) mediate Lmx1b auto-amplification during limb dorsalization and their disruption can cause a limb-specific form of Nail-Patella syndrome

Author

Oberg, Kerby C., Haro, Endika, Petit, Florence, Pira, Charmaine, Spady, Conor, Ivey, Lauren, Gray, Austin L., Escande, Fabienne, Jourdain, Anne-Sophie, Nguyen, Andy, Good, Jean-Marc, Francannet, Christine, Manouvrier-Hanu, Sylvie, Ros, María A., Oberg, Kerby C., Haro, Endika, Petit, Florence, Pira, Charmaine, Spady, Conor, Ivey, Lauren, Gray, Austin L., Escande, Fabienne, Jourdain, Anne-Sophie, Nguyen, Andy, Good, Jean-Marc, Francannet, Christine, Manouvrier-Hanu, Sylvie, and Ros, María A.

Abstract

During limb development, the Lmx1b homeodomain transcription factor is restricted to dorsal mesenchyme and is required for distal dorsalization. Lmx1b also contributes to kidney, eye and cerebellar development. Haploinsufficiency of the human LMX1B genes causes Nail-Patella Syndrome (NPS) characterized by nail dysplasia, absent or hypoplastic patellae, eye abnormalities, and progressive kidney disease. In the functional Lmx1b knockout mouse, transcription of the mutant Lmx1b mRNA in the limb is reduced, indicating a role for Lmx1b in an auto-amplifying feedback loop. Previous Lmx1b-targeted ChIP-seq data identified two Lmx1b-associated regulatory modules (LARM1/2) bound by Lmx1b. Herein, we demonstrate that LARM1/2 activity overlaps Lmx1b expression in the dorsal limb mesoderm and is dependent on conserved Lmx1b binding sites for activity. We also demonstrate interaction between the LARM enhancers and the Lmx1b promoter. In addition, we performed a targeted CRISPR-Cas excision of the LARM1/2 region in mice; loss of LARM1/2 reduced the expression of Lmx1b in normal mice and generated a phenotype with nearly symmetrical ventral-ventral distal limbs. LARM1/2 loss was limb-specific and did not affect any other Lmx1b-related organs. We extended our investigation to humans with an NPS phenotype that lacked a variation within the LMX1B coding sequence. In two families with a limb-restricted phenotype, loss-of-function variations in the LARM region were identified. These data indicate that the limb-specific expression of Lmx1b is amplified through an auto-regulatory loop involving LARM1/2. Furthermore, disruption of LARM1/2 function can cause isolated limb malformations in mice and human NPS.

Published
2019

156. A clinical scoring system for congenital contractural arachnodactyly.

Author

Meerschaut, Ilse, De Coninck, Shana, Steyaert, Wouter, Barnicoat, Angela, Bayat, Allan, Benedicenti, Francesco, Berland, Siren, Blair, Edward M, Breckpot, Jeroen, de Burca, Anna, Destrée, Anne, García-Miñaúr, Sixto, Green, Andrew J, Hanna, Bernadette C, Keymolen, Kathelijn, Koopmans, Marije, Lederer, Damien, Lees, Melissa, Longman, Cheryl, Lynch, Sally Ann, Male, Alison M, McKenzie, Fiona, Migeotte, Isabelle, Mihci, Ercan, Nur, Banu, Petit, Florence, Piard, Juliette, Plasschaert, Frank FS, Rauch, Anita, Ribai A Nyam, Pascale, Pacheco, Iratxe Salcedo, Stanzial, Franco, Stolte-Dijkstra, Irene, Valenzuela, Irene, Varghese, Vinod, Vasudevan, Pradeep C, Wakeling, Emma L, Wallgren-Pettersson, Carina, Coucke, Paul, De Paepe, Anne, De Wolf, Daniël, Symoens, Sofie, Callewaert, Bert, Meerschaut, Ilse, De Coninck, Shana, Steyaert, Wouter, Barnicoat, Angela, Bayat, Allan, Benedicenti, Francesco, Berland, Siren, Blair, Edward M, Breckpot, Jeroen, de Burca, Anna, Destrée, Anne, García-Miñaúr, Sixto, Green, Andrew J, Hanna, Bernadette C, Keymolen, Kathelijn, Koopmans, Marije, Lederer, Damien, Lees, Melissa, Longman, Cheryl, Lynch, Sally Ann, Male, Alison M, McKenzie, Fiona, Migeotte, Isabelle, Mihci, Ercan, Nur, Banu, Petit, Florence, Piard, Juliette, Plasschaert, Frank FS, Rauch, Anita, Ribai A Nyam, Pascale, Pacheco, Iratxe Salcedo, Stanzial, Franco, Stolte-Dijkstra, Irene, Valenzuela, Irene, Varghese, Vinod, Vasudevan, Pradeep C, Wakeling, Emma L, Wallgren-Pettersson, Carina, Coucke, Paul, De Paepe, Anne, De Wolf, Daniël, Symoens, Sofie, and Callewaert, Bert

Abstract

Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder manifesting joint contractures, arachnodactyly, crumpled ears, and kyphoscoliosis as main features. Due to its rarity, rather aspecific clinical presentation, and overlap with other conditions including Marfan syndrome, the diagnosis is challenging, but important for prognosis and clinical management. CCA is caused by pathogenic variants in FBN2, encoding fibrillin-2, but locus heterogeneity has been suggested. We designed a clinical scoring system and diagnostic criteria to support the diagnostic process and guide molecular genetic testing., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2019

158. Liste des collaborateurs

Author

Arveiler, Benoît, Auger, Nathalie, Bartoli, Marc, Becquemont, Laurent, Béroud, Christophe, Bézieau, Stéphane, Biancalana, Valérie, Bilhou-Nabéra, Chrystèle, Blanc, Pierre, Bonneau, Dominique, Brice, Alexis, Chabannon, Christian, Colas, Chrystelle, Corcuff, Mélanie, Cormier-Daire, Valérie, Coutton, Charles, Denommé-Pichon, Anne-Sophie, Doco-Fenzy, Martine, Dollfus, Hélène, Edery, Patrick, Feingold, Josué, Férec, Claude, Frébourg, Thierry, de Fréminville, Bénédicte, Geneviève, David, Goizet, Cyril, Grattepanche, Coralie, Guien, Céline, Heinzmann, Anna, Héron, Delphine, Houdayer, Claude, Huet, Frédéric, Kannengiesser, Caroline, Krahn, Martin, Labarthe, François, Lacombe, Didier, Lèbre, Anne-Sophie, Le Caignec, Cédric, Leheup, Bruno, Lesca, Gaëtan, Lévy, Nicolas, Loriot, Marie-Anne, Lyonnet, Stanislas, Malan, Valérie, Malzac, Perrine, Mandel, Jean-Louis, Marlin, Sandrine, Mattei, Jean-François, Ménoret, Estelle, Muller, Jean, Munnich, Arnold, Nguyen, Karine, Nicolas, Gaël, Odent, Sylvie, Pacot, Laurence, Paquis-Flucklinger, Véronique, Parfait, Béatrice, Pasmant, Eric, Pasquier, Laurent, Petit, Florence, Philip, Nicole, Plutino, Morgane, Putoux, Audrey, Ramond, Francis, Romana, Serge, Rooryck-Thambo, Caroline, Rötig, Agnès, Roussey, Michel, Salgado, David, Sanlaville, Damien, Saugier-Veber, Pascale, Schluth-Bolard, Caroline, Siffroi, Jean-Pierre, Stoppa-Lyonnet, Dominique, Thauvin, Christel, Touraine, Renaud, Troadec, Marie-Bérengère, Verloes, Alain, Vidaud, Dominique, and Vidaud, Michel

Published
2022
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159. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Author

Burglen Lydie, Chantot-Bastaraud Sandra, Garel Catherine, Milh Mathieu, Touraine Renaud, Zanni Ginevra, Petit Florence, Afenjar Alexandra, Goizet Cyril, Barresi Sabina, Coussement Aurélie, Ioos Christine, Lazaro Leila, Joriot Sylvie, Desguerre Isabelle, Lacombe Didier, des Portes Vincent, Bertini Enrico, Siffroi Jean-Pierre, Billette de Villemeur Thierry, and Rodriguez Diana

Subjects
Pontocerebellar hypoplasia, Microcephaly, CASK gene, Mosaicism, Array-CGH, Medicine
Abstract

Abstract Background Pontocerebellar hypoplasia (PCH) is a heterogeneous group of diseases characterized by lack of development and/or early neurodegeneration of cerebellum and brainstem. According to clinical features, seven subtypes of PCH have been described, PCH type 2 related to TSEN54 mutations being the most frequent. PCH is most often autosomal recessive though de novo anomalies in the X-linked gene CASK have recently been identified in patients, mostly females, presenting with intellectual disability, microcephaly and PCH (MICPCH). Methods Fourteen patients (12 females and two males; aged 16 months-14 years) presenting with PCH at neuroimaging and with clinical characteristics unsuggestive of PCH1 or PCH2 were included. The CASK gene screening was performed using Array-CGH and sequencing. Clinical and neuroradiological features were collected. Results We observed a high frequency of patients with a CASK mutation (13/14). Ten patients (8 girls and 2 boys) had intragenic mutations and three female patients had a Xp11.4 submicroscopic deletion including the CASK gene. All were de novo mutations. Phenotype was variable in severity but highly similar among the 11 girls and was characterized by psychomotor retardation, severe intellectual disability, progressive microcephaly, dystonia, mild dysmorphism, and scoliosis. Other signs were frequently associated, such as growth retardation, ophthalmologic anomalies (glaucoma, megalocornea and optic atrophy), deafness and epilepsy. As expected in an X-linked disease manifesting mainly in females, the boy hemizygous for a splice mutation had a very severe phenotype with nearly no development and refractory epilepsy. We described a mild phenotype in a boy with a mosaic truncating mutation. We found some degree of correlation between severity of the vermis hypoplasia and clinical phenotype. Conclusion This study describes a new series of PCH female patients with CASK inactivating mutations and confirms that these patients have a recognizable although variable phenotype consisting of a specific form of pontocerebellar hypoplasia. In addition, we report the second male patient to present with a severe MICPCH phenotype and a de novo CASK mutation and describe for the first time a mildly affected male patient harboring a mosaic mutation. In our reference centre, CASK related PCH is the second most frequent cause of PCH. The identification of a de novo mutation in these patients enables accurate and reassuring genetic counselling.

Published
2012
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160. Intégration de données transcriptomiques et phénomiques ovines. Analyse MixOmics des données de programmation foetale de l'ovaire

Author

Genet, Carine, Plisson-Petit, Florence, Sarry, Julien, Monniaux, Danielle, Fabre, Stéphane, Génétique Physiologie et Systèmes d'Elevage (GenPhySE ), Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-École nationale supérieure agronomique de Toulouse [ENSAT]-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Physiologie de la reproduction et des comportements [Nouzilly] (PRC), Institut Français du Cheval et de l'Equitation [Saumur]-Université de Tours (UT)-Centre National de la Recherche Scientifique (CNRS)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), and Institut Français du Cheval et de l'Equitation [Saumur]-Université de Tours-Centre National de la Recherche Scientifique (CNRS)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)

Subjects
[SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics, ComputingMilieux_MISCELLANEOUS
Abstract

National audience

Published
2018

161. Conquêtes mongoles et expansion radiale du polymorphisme du système de groupe sanguin Diego en Asie

Author

Petit, Florence, Minnai, Francesca, Bailly, Pascal, Chiaroni, Jacques, Mazières, Stéphane, Costedoat, Caroline, Anthropologie bio-culturelle, Droit, Ethique et Santé (ADES), Aix Marseille Université (AMU)-EFS ALPES MEDITERRANEE-Centre National de la Recherche Scientifique (CNRS), Etablissement Français du Sang - Alpes-Méditerranée (EFS - Alpes-Méditerranée), and Etablissement Français du Sang

Subjects
[SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2018

163. Utilisation du pyroséquençage pour des analyses de méthylation tout génome

Author

Leroux, Sophie, Plisson-Petit, Florence, Hazard, Dominique, Drouilhet, Laurence, Pitel, Frédérique, Génétique Physiologie et Systèmes d'Elevage (GenPhySE ), École nationale supérieure agronomique de Toulouse [ENSAT]-Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), and Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées

Subjects
[SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics, [SDV]Life Sciences [q-bio], [INFO]Computer Science [cs], pyroséquençage, genome
Published
2018

165. Additional file 6: of Revealing the selection history of adaptive loci using genome-wide scans for selection: an example from domestic sheep

Author

Rochus, Christina, Tortereau, Flavie, Plisson-Petit, Florence, Restoux, Gwendal, Moreno-Romieux, Carole, Tosser-Klopp, Gwenola, and Servin, Bertrand

Abstract

Principal component analysis. PCA using 500Â K SNP genotypes of all French breeds in this study except MĂŠrinos de Rambouillet and Ouessant sheep. (PDF 19Â kb)

Published
2018
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166. Génétique de l'Epigénitique chez les ovins

Author

Drouilhet, Laurence, Plisson-Petit, Florence, Hazard, Dominique, Marcon, Didier, Bouvier, Frédéric, Moreno-Romieux, Carole, Fabre, Stéphane, Génétique Physiologie et Systèmes d'Elevage (GenPhySE ), École nationale supérieure agronomique de Toulouse [ENSAT]-Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Domaine expérimental Bourges-La Sapinière (BOURGES), Institut National de la Recherche Agronomique (INRA), and Métaprogramme SelGen

Subjects
[SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT], ovin, pyroséquençage, métyaltion ADN, ComputingMilieux_MISCELLANEOUS, Autre (Sciences du Vivant)
Abstract

National audience

Published
2018

167. Additional file 8: of Revealing the selection history of adaptive loci using genome-wide scans for selection: an example from domestic sheep

Author

Rochus, Christina, Tortereau, Flavie, Plisson-Petit, Florence, Restoux, Gwendal, Moreno-Romieux, Carole, Tosser-Klopp, Gwenola, and Servin, Bertrand

Subjects
fungi, cardiovascular system, urologic and male genital diseases, tissues, eye diseases
Abstract

FLK results. FLK regions under selection, SNP frequencies, haplotype cluster frequencies and SNP and haplotype local trees. (PDF 14210Â kb)

Published
2018
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169. Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations

Author

Cárdenas-de-la-Parra, Alonso, primary, Martin-Brevet, Sandra, additional, Moreau, Clara, additional, Rodriguez-Herreros, Borja, additional, Fonov, Vladimir S., additional, Maillard, Anne M., additional, Zürcher, Nicole R., additional, Hadjikhani, Nouchine, additional, Beckmann, Jacques S., additional, Reymond, Alexandre, additional, Draganski, Bogdan, additional, Jacquemont, Sébastien, additional, Collins, D. Louis, additional, Addor, Marie-Claude, additional, Andrieux, Joris, additional, Arveiler, Benoît, additional, Baujatm, Geneviève, additional, Sloan-Bénan, Frédérique, additional, Belfiore, Marco, additional, Bonneau, Dominique, additional, Bouquillon, Sonia, additional, Boute, Odile, additional, Brusco, Alfredo, additional, Busa, Tiffany, additional, Caberg, Jean-Hubert, additional, Campion, Dominique, additional, Colombert, Vanessa, additional, Cordier, Marie-Pierre, additional, David, Albert, additional, Debray, François-Guillaume, additional, Delrue, Marie-Ange, additional, Doco-Fenzy, Martine, additional, Dunkhase-Heinl, Ulrike, additional, Edery, Patrick, additional, Fagerberg, Christina, additional, Faivre, Laurence, additional, Forzano, Francesca, additional, Genevieve, David, additional, Gérard, Marion, additional, Giachino, Daniela, additional, Guichet, Agnès, additional, Guillin, Olivier, additional, Héron, Delphine, additional, Isidor, Bertrand, additional, Jacquette, Aurélia, additional, Jaillard, Sylvie, additional, Journel, Hubert, additional, Keren, Boris, additional, Lacombe, Didier, additional, Lebon, Sébastien, additional, Le Caignec, Cédric, additional, Lemaître, Marie-Pierre, additional, Lespinasse, James, additional, Mathieu-Dramart, Michèle, additional, Mercier, Sandra, additional, Mignot, Cyril, additional, Missirian, Chantal, additional, Petit, Florence, additional, Pilekær Sørensen, Kristina, additional, Pinson, Lucile, additional, Plessis, Ghislaine, additional, Prieur, Fabienne, additional, Rooryck-Thambo, Caroline, additional, Rossi, Massimiliano, additional, Sanlaville, Damien, additional, Schlott Kristiansen, Britta, additional, Schluth-Bolard, Caroline, additional, Till, Marianne, additional, Van Haelst, Mieke, additional, and Van Maldergem, Lionel, additional

Published
2019
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171. Aberrant granulosa cell-fate related to inactivated p53/Rb signaling contributes to granulosa cell tumors and to FOXL2 downregulation in the mouse ovary

Author

Cluzet, Victoria, primary, Devillers, Marie M., additional, Petit, Florence, additional, Chauvin, Stéphanie, additional, François, Charlotte M., additional, Giton, Frank, additional, Genestie, Catherine, additional, di Clemente, Nathalie, additional, Cohen-Tannoudji, Joëlle, additional, and Guigon, Céline J., additional

Published
2019
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172. Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations

Author

Jourdain, Anne‐Sophie, primary, Petit, Florence, additional, Odou, Marie‐Françoise, additional, Balduyck, Malika, additional, Brunelle, Perrine, additional, Dufour, William, additional, Boussion, Simon, additional, Brischoux‐Boucher, Elise, additional, Colson, Cindy, additional, Dieux, Anne, additional, Gérard, Marion, additional, Ghoumid, Jamal, additional, Giuliano, Fabienne, additional, Goldenberg, Alice, additional, Khau Van Kien, Philippe, additional, Lehalle, Daphné, additional, Morin, Gilles, additional, Moutton, Sébastien, additional, Smol, Thomas, additional, Vanlerberghe, Clémence, additional, Manouvrier‐Hanu, Sylvie, additional, and Escande, Fabienne, additional

Published
2019
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174. Prenatal programming by testosterone of follicular theca cell functions in ovary

Author

Monniaux, Danielle, primary, Genêt, Carine, additional, Maillard, Virginie, additional, Jarrier, Peggy, additional, Adriaensen, Hans, additional, Hennequet-Antier, Christelle, additional, Lainé, Anne-Lyse, additional, Laclie, Corinne, additional, Papillier, Pascal, additional, Plisson-Petit, Florence, additional, Estienne, Anthony, additional, Cognié, Juliette, additional, di Clemente, Nathalie, additional, Dalbies-Tran, Rozenn, additional, and Fabre, Stéphane, additional

Published
2019
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175. WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature

Author

Brunelle, Perrine, primary, Jourdain, Anne‐Sophie, additional, Escande, Fabienne, additional, Martinovic, Jelena, additional, Dupont, Juliette, additional, Busa, Tiffany, additional, Moncla, Anne, additional, Frénois, Frédéric, additional, Stichelbout, Morgane, additional, Manouvrier‐Hanu, Sylvie, additional, and Petit, Florence, additional

Published
2019
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176. Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS

Author

Gratia, Matthieu, primary, Rodero, Mathieu P., additional, Conrad, Cécile, additional, Bou Samra, Elias, additional, Maurin, Mathieu, additional, Rice, Gillian I., additional, Duffy, Darragh, additional, Revy, Patrick, additional, Petit, Florence, additional, Dale, Russell C., additional, Crow, Yanick J., additional, Amor-Gueret, Mounira, additional, and Manel, Nicolas, additional

Published
2019
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178. Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes

Author

Mary, Laura, primary, Chennen, Kirsley, additional, Stoetzel, Corinne, additional, Antin, Manuela, additional, Leuvrey, Anne, additional, Nourisson, Elsa, additional, Alanio‐Detton, Elisabeth, additional, Antal, Maria C., additional, Attié‐Bitach, Tania, additional, Bouvagnet, Patrice, additional, Bouvier, Raymonde, additional, Buenerd, Annie, additional, Clémenson, Alix, additional, Devisme, Louise, additional, Gasser, Bernard, additional, Gilbert‐Dussardier, Brigitte, additional, Guimiot, Fabien, additional, Khau Van Kien, Philippe, additional, Leroy, Brigitte, additional, Loget, Philippe, additional, Martinovic, Jelena, additional, Pelluard, Fanny, additional, Perez, Marie‐Josée, additional, Petit, Florence, additional, Pinson, Lucile, additional, Rooryck‐Thambo, Caroline, additional, Poch, Olivier, additional, Dollfus, Hélène, additional, Schaefer, Elise, additional, and Muller, Jean, additional

Published
2019
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179. Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study

Author

Viguier, Agnès, primary, Lauwers-Cances, Valérie, additional, Cintas, Pascal, additional, Manel, Véronique, additional, Peudenier, Sylviane, additional, Desguerre, Isabelle, additional, Quijano-Roy, Susana, additional, Vanhulle, Catherine, additional, Fradin, Mélanie, additional, Isapof, Arnaud, additional, Jokic, Michaël, additional, Mathieu-Dramard, Michèle, additional, Dieterich, Klaus, additional, Petit, Florence, additional, Magdelaine, Corinne, additional, Giuliano, Fabienne, additional, Gras, Domitille, additional, Haye, Damien, additional, Nizon, Mathilde, additional, Magen, Maryse, additional, Bieth, Eric, additional, and Cances, Claude, additional

Published
2019
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181. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Author

Karolak, Justyna A., primary, Vincent, Marie, additional, Deutsch, Gail, additional, Gambin, Tomasz, additional, Cogné, Benjamin, additional, Pichon, Olivier, additional, Vetrini, Francesco, additional, Mefford, Heather C., additional, Dines, Jennifer N., additional, Golden-Grant, Katie, additional, Dipple, Katrina, additional, Freed, Amanda S., additional, Leppig, Kathleen A., additional, Dishop, Megan, additional, Mowat, David, additional, Bennetts, Bruce, additional, Gifford, Andrew J., additional, Weber, Martin A., additional, Lee, Anna F., additional, Boerkoel, Cornelius F., additional, Bartell, Tina M., additional, Ward-Melver, Catherine, additional, Besnard, Thomas, additional, Petit, Florence, additional, Bache, Iben, additional, Tümer, Zeynep, additional, Denis-Musquer, Marie, additional, Joubert, Madeleine, additional, Martinovic, Jelena, additional, Bénéteau, Claire, additional, Molin, Arnaud, additional, Carles, Dominique, additional, André, Gwenaelle, additional, Bieth, Eric, additional, Chassaing, Nicolas, additional, Devisme, Louise, additional, Chalabreysse, Lara, additional, Pasquier, Laurent, additional, Secq, Véronique, additional, Don, Massimiliano, additional, Orsaria, Maria, additional, Missirian, Chantal, additional, Mortreux, Jérémie, additional, Sanlaville, Damien, additional, Pons, Linda, additional, Küry, Sébastien, additional, Bézieau, Stéphane, additional, Liet, Jean-Michel, additional, Joram, Nicolas, additional, Bihouée, Tiphaine, additional, Scott, Daryl A., additional, Brown, Chester W., additional, Scaglia, Fernando, additional, Tsai, Anne Chun-Hui, additional, Grange, Dorothy K., additional, Phillips, John A., additional, Pfotenhauer, Jean P., additional, Jhangiani, Shalini N., additional, Gonzaga-Jauregui, Claudia G., additional, Chung, Wendy K., additional, Schauer, Galen M., additional, Lipson, Mark H., additional, Mercer, Catherine L., additional, van Haeringen, Arie, additional, Liu, Qian, additional, Popek, Edwina, additional, Coban Akdemir, Zeynep H., additional, Lupski, James R., additional, Szafranski, Przemyslaw, additional, Isidor, Bertrand, additional, Le Caignec, Cedric, additional, and Stankiewicz, Paweł, additional

Published
2019
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185. New Anti-Müllerian Hormone Target Genes Involved in Granulosa Cell Survival in Women With Polycystic Ovary Syndrome.

Author

Racine, Chrystèle, Genêt, Carine, Bourgneuf, Camille, Dupont, Charlotte, Plisson-Petit, Florence, Sarry, Julien, Hennequet-Antier, Christelle, Vigouroux, Corinne, d'Argent, Emmanuelle Mathieu, Pierre, Alice, Monniaux, Danielle, Fabre, Stéphane, di Clemente, Nathalie, and Mathieu d'Argent, Emmanuelle

Subjects
ANTI-Mullerian hormone, OVARIAN follicle, GRANULOSA cells, OVARIAN reserve, POLYCYSTIC ovary syndrome, INTERMEDIATE filament proteins, BONE morphogenetic proteins, RESEARCH, CELL culture, ANIMAL experimentation, RESEARCH methodology, APOPTOSIS, CASE-control method, CELL physiology, MEDICAL cooperation, EVALUATION research, COMPARATIVE studies, SEX hormones, GENES, MICE
Abstract

Purpose: A protective effect of anti-Müllerian hormone (AMH) on follicle atresia was recently demonstrated using long-term treatments, but this effect has never been supported by mechanistic studies. This work aimed to gain an insight into the mechanism of action of AMH on follicle atresia and on how this could account for the increased follicle pool observed in women with polycystic ovary syndrome (PCOS).Methods: In vivo and in vitro experiments were performed to study the effects of AMH on follicle atresia and on the proliferation and apoptosis of granulosa cells (GCs). RNA-sequencing was carried out to identify new AMH target genes in GCs. The expression of some of these genes in GCs from control and PCOS women was compared using microfluidic real time quantitative RT-PCR.Results: A short-term AMH treatment prevented follicle atresia in prepubertal mice. Consistent with this result, AMH inhibited apoptosis and promoted proliferation of different models of GCs. Moreover, integrative biology analyses of 965 AMH target genes identified in 1 of these GC models, confirmed that AMH had initiated a gene expression program favoring cell survival and proliferation. Finally, on 43 genes selected among the most up- and down-regulated AMH targets, 8 were up-regulated in GCs isolated from PCOS women, of which 5 are involved in cell survival.Main Conclusions: Our results provide for the first time cellular and molecular evidence that AMH protects follicles from atresia by controlling GC survival and suggest that AMH could participate in the increased follicle pool of PCOS patients. [ABSTRACT FROM AUTHOR]

Published
2021
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186. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

Author

Reinthaler, Eva M., Lal, Dennis, Lebon, Sebastien, Hildebrand, Michael S., Dahl, Hans-Henrik M., Regan, Brigid M., Feucht, Martha, Steinböck, Hannelore, Neophytou, Birgit, Ronen, Gabriel M., Roche, Laurian, Gruber-Sedlmayr, Ursula, Geldner, Julia, Haberlandt, Edda, Hoffmann, Per, Herms, Stefan, Gieger, Christian, Waldenberger, Melanie, Franke, Andre, Wittig, Michael, Schoch, Susanne, Becker, Albert J., Hahn, Andreas, Männik, Katrin, Toliat, Mohammad R., Winterer, Georg, Lerche, Holger, Nürnberg, Peter, Mefford, Heather, Scheffer, Ingrid E., Berkovic, Samuel F., Beckmann, Jacques S., Sander, Thomas, Jacquemont, Sebastien, Reymond, Alexandre, Zimprich, Fritz, Neubauer, Bernd A., Neubauer, Bernd, Mörzinger, Martina, Suls, Arvid, Weckhuysen, Sarah, Claes, Lieve, Deprez, Liesbet, Smets, Katrien, Van Dyck, Tine, Deconinck, Tine, De Jonghe, Peter, Møller, Rikke S., Klitten, Laura L., Hjalgrim, Helle, Campus, Kiel, Helbig, Ingo, Muhle, Hiltrud, Ostertag, Philipp, von Spiczak, Sarah, Stephani, Ulrich, Trucks, Holger, Elger, Christian E., Kleefuß-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Gaus, Verena, Janz, Dieter, Schmitz, Bettina, Rosenow, Felix, Klein, Karl Martin, Reif, Philipp S., Oertel, Wolfgang H., Hamer, Hajo M., Becker, Felicitas, Weber, Yvonne, Koeleman, Bobby P.C., de Kovel, Carolien, Lindhout, Dick, Ameil, Agnès, Andrieux, Joris, Bouquillon, Sonia, Boute, Odile, de Flandre, Jeanne, Cuisset, Jean Marie, Cuvellier, Jean-Christophe, Salengro, Roger, David, Albert, de Vries, Bert, Delrue, Marie-Ange, Doco-Fenzy, Martine, Fernandez, Bridget A., Heron, Delphine, Keren, Boris, Lebel, Robert, Leheup, Bruno, Lewis, Suzanne, Mencarelli, Maria Antonietta, Mignot, Cyril, Minet, Jean-Claude, Moerman, Alexandre, Morice-Picard, Fanny, Mucciolo, Mafalda, Ounap, Katrin, Pasquier, Laurent, Petit, Florence, Ragona, Francesca, Rajcan-Separovic, Evica, Renieri, Alessandra, Rieubland, Claudine, Sanlaville, Damien, Sarrazin, Elisabeth, Shen, Yiping, van Haelst, Mieke, and Silfhout, Anneke Vulto-van

Abstract

Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a complex genetic etiology is assumed in the majority of affected individuals. The present study tested whether six large recurrent copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 previously associated with neurodevelopmental disorders also increase risk of RE. Our association analyses revealed a significant excess of the 600 kb genomic duplication at the 16p11.2 locus (chr16: 29.5-30.1 Mb) in 393 unrelated patients with typical (n = 339) and atypical (ARE; n = 54) RE compared with the prevalence in 65 046 European population controls (5/393 cases versus 32/65 046 controls; Fisher's exact test P = 2.83 × 10−6, odds ratio = 26.2, 95% confidence interval: 7.9-68.2). In contrast, the 16p11.2 duplication was not detected in 1738 European epilepsy patients with either temporal lobe epilepsy (n = 330) and genetic generalized epilepsies (n = 1408), suggesting a selective enrichment of the 16p11.2 duplication in idiopathic focal childhood epilepsies (Fisher's exact test P = 2.1 × 10−4). In a subsequent screen among children carrying the 16p11.2 600 kb rearrangement we identified three patients with RE-spectrum epilepsies in 117 duplication carriers (2.6%) but none in 202 carriers of the reciprocal deletion. Our results suggest that the 16p11.2 duplication represents a significant genetic risk factor for typical and atypical RE

Published
2017

187. Caractérisation d'une duplication de 71kb au locus ASIP impliquée dans le phénotype beige/fawn du plumage de la caille japonaise

Author

Boulliou-Robic, Annie, Leroux, Sophie, Gourichon, David, Trussardi, Damien, Zerjal, Tatiana, Esquerre, Diane, Plisson-Petit, Florence, Fillon, Valerie, Vignal, Alain, Minvielle, Francis, Pitel, Frederique, Morisson, Mireille, Génétique Physiologie et Systèmes d'Elevage (GenPhySE ), Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-École nationale supérieure agronomique de Toulouse [ENSAT], Pôle d'Expérimentation Avicole de Tours (PEAT), Institut National de la Recherche Agronomique (INRA), Génétique Animale et Biologie Intégrative (GABI), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, GeT PlaGe, Genotoul, ProdInra, Archive Ouverte, École nationale supérieure agronomique de Toulouse [ENSAT]-Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Pôle d'Expérimentation Avicole de Tours (UE PEAT), Génome et Transcriptome - Plateforme Génomique (GeT-PlaGe), Institut National de la Recherche Agronomique (INRA)-Plateforme Génome & Transcriptome (GET), Génopole Toulouse Midi-Pyrénées [Auzeville] (GENOTOUL), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Génopole Toulouse Midi-Pyrénées [Auzeville] (GENOTOUL), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Génopole Toulouse Midi-Pyrénées [Auzeville] (GENOTOUL), Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), GenPhySE - UMR 1388 ( Génétique Physiologie et Systèmes d'Elevage ), Institut National de la Recherche Agronomique ( INRA ) -École nationale supérieure agronomique de Toulouse [ENSAT]-ENVT, Pôle d'Expérimentation Avicole de Tours ( PEAT ), Institut National de la Recherche Agronomique ( INRA ), Génétique Animale et Biologie Intégrative ( GABI ), and Institut National de la Recherche Agronomique ( INRA ) -AgroParisTech

Subjects
[SDV] Life Sciences [q-bio], phénotype, [ SDV ] Life Sciences [q-bio], [SDV]Life Sciences [q-bio], caille japonaise, génétique, génomique
Abstract

The recent availability of the reference genome of the Japanese quail (March 2016) allows the molecularcharacterization by high-throughput sequencing of causal mutations of phenotypes for which the locusresponsible is known, as for the Fawn phenotype involving the ASIP gene. The reads obtained by paired-endsequencing of two Fawn quails were aligned on the quail reference genome. This alignment was carefullyexamined in the ASIP gene region (quail chromosome 20) and we found a tandem duplication of a region ofabout 71 kb. In this new region, there was a copy of the ASIP gene that was in a normal situation, while thesecond copy was included in an ITCH-ASIP fusion gene. After characterization of different transcripts from theregion, we characterized the transcript of the fusion gene: this transcript contained exon 1 (non-coding) of ITCHand the three coding exons of ASIP. The mutation is already known to cause an excess of ASIP transcripts,measured on the coding region. In addition, quantitative PCR was performed to evaluate the importance ofdifferent transcripts issued from this region. These assays clearly show that it is the excessive transcription of theITCH-ASIP gene into a fusion transcript that leads to the excess of transcripts coding for the ASIP protein., La récente mise à disposition du génome de référence de la caille japonaise (mars 2016) a rendu possible lacaractérisation moléculaire par séquençage haut débit de mutations causales de phénotypes dont le locusimpliqué est connu, comme le phénotype Beige (Fawn) impliquant le gène ASIP. Les lectures appairées obtenuespar séquençage de deux cailles de phénotype Beige ont été alignées sur le génome de référence de la caille. Cetalignement a été examiné attentivement dans la région du gène ASIP (Chromosome 20 de la caille) et uneduplication d’une région de près de 71 kb a été mise en évidence. Dans cette région dupliquée, il y a une copiedu gène ASIP qui est dans une situation normale alors que la seconde copie est incluse dans un gène de fusionITCH-ASIP. Après avoir caractérisé les différents transcrits issus de la région, nous avons caractérisé le transcritdu gène de fusion : ce transcrit contient l’exon 1 (non codant) d’ITCH et les trois exons codants d’ASIP. Lamutation était déjà connue pour entrainer un excès de transcrits ASIP, évalués sur la partie codante, aussi nousavons réalisé des PCR quantitatives pour évaluer l’importance des différents transcrits d’ASIP et du gène defusion. Ces dosages montrent clairement que c’est la transcription excessive du gène ITCH-ASIP en un transcritde fusion qui aboutit à cet excès de transcrits codants pour une protéine ASIP.

Published
2017

188. ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Author

Cuvertino, Sara, Stuart, Helen M., Chandler, Kate E., Roberts, Neil A., Armstrong, Ruth, Bernardini, Laura, Bhaskar, Sanjeev, Callewaert, Bert, Clayton-Smith, Jill, Davalillo, Cristina Hernando, Deshpande, Charu, Devriendt, Koenraad, Digilio, Maria C., Dixit, Abhijit, Edwards, Matthew, Friedman, Jan M., Gonzalez-Meneses, Antonio, Joss, Shelagh, Kerr, Bronwyn, Lampe, Anne Katrin, Langlois, Sylvie, Lennon, Rachel, Loget, Philippe, Ma, David Y. T., Mcgowan, Ruth, Des Medt, Maryse, O'Sullivan, James, Odent, Sylvie, Parker, Michael J., Pebrel-Richard, Céline, Petit, Florence, Stark, Zornitza, Stockler-Ipsiroglu, Sylvia, Tinschert, Sigrid, Vasudevan, Pradeep, Villa, Olaya, White, Susan M., Zahir, Farah R., Study, Ddd, Woolf, Adrian S., Banka, Siddharth, University of Manchester [Manchester], Regional Genetic Service, St Mary's Hospital, Manchester, East Anglian Medical Genetics Service, Cytogenetics Laboratory, Addenbrooke's Hospital, Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza Hospital, Center for Medical Genetics [Ghent], Ghent University Hospital, Centre for Genomic Regulation [Barcelona] (CRG), Universitat Pompeu Fabra [Barcelona]-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Guy's Hospital [London], Centre for Human Genetics, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven)-University Hospitals Leuven [Leuven], IRCCS Ospedale Pediatrico Bambino Gesù [Roma], Nottingham City Hospital, Western Sydney University (UWS), University of British Columbia (UBC), Department of Clinical Genetics (Queen Elizabeth University Hospital, Glasgow), Queen Elizabeth University Hospital (Glasgow), University of Edinburgh, Service d'anatomie et cytologie pathologiques [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Department of Clinical Genetics, Leicester Royal Infirmary, CLAD Ouest, Centre Hospitalier Universitaire [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Sheffield Children's Hospital, CHU Clermont-Ferrand, CHU de Lille, Genetic Health Services Victoria, Innsbruck Medical University [Austria] (IMU), University Hospitals of Leicester, University of Melbourne, Victorian Clinical Genetics Services, University of Northern British Columbia (UNBC), Hamad Bin Khalifa University (HBKU), The Wellcome Trust Sanger Institute [Cambridge], L002744/1, Medical Research Council UK, Central Manchester University Hospitals NHS Foundation Trust, Kidney Research UK, NIHR, Academy of Medical Sciences, 16-17/10, Newlife Foundation, 629396, Kabuki Research Fund, Wellcome Trust, HICF-1009-003, Health Innovation Challenge Fund, WT098051, Wellcome Trust Sanger Institute, Istituto di Ricovero e Cura a Carattere Scientifico, Ospedale Casa Sollievo della Sofferenza [San Giovanni Rotondo] (IRCCS), Universitat Pompeu Fabra [Barcelona] (UPF)-Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Western Sydney University, Service d'anatomie et cytologie pathologiques [Rennes] = Anatomy and Cytopathology [Rennes], CHU Pontchaillou [Rennes], University Hospitals Leicester-University Hospitals Leicester, Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Sheffield Children's NHS Foundation Trust, University Hospitals Leicester, University of Northern British Columbia [Prince George] (UNBC), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), and Innsbruck Medical University = Medizinische Universität Innsbruck (IMU)

Subjects
DYNAMICS, Male, Developmental Disabilities, CYTOSKELETON, Haploinsufficiency, Mice, Medicine and Health Sciences, RNA, Small Interfering, Child, Frameshift Mutation, developmental disorder, ARCHITECTURE, Cell Cycle, Coloboma, Malformations of Cortical Development, Codon, Nonsense, Child, Preschool, DELAY, malformations, Female, RNA Interference, Abnormalities, Multiple, Adult, Adolescent, Small Interfering, Young Adult, WINTER CEREBROFRONTOFACIAL SYNDROME, Report, Intellectual Disability, Humans, Animals, Abnormalities, Multiple, MALFORMATIONS, β-actin, Preschool, Codon, Aged, Cell Proliferation, [SDV.GEN]Life Sciences [q-bio]/Genetics, Infant, Newborn, Biology and Life Sciences, Infant, Facies, ACTB, Newborn, NUCLEAR ACTIN, Actins, BETA-ACTIN, Nonsense, DE-NOVO MUTATIONS, MECHANICS, chromatin, RNA, Gene Deletion
Abstract

ACTB encodes β-actin, an abundant cytoskeletal housekeeping protein. In humans, postulated gain-of-function missense mutations cause Baraitser-Winter syndrome (BRWS), characterized by intellectual disability, cortical malformations, coloboma, sensorineural deafness, and typical facial features. To date, the consequences of loss-of-function ACTB mutations have not been proven conclusively. We describe heterozygous ACTB deletions and nonsense and frameshift mutations in 33 individuals with developmental delay, apparent intellectual disability, increased frequency of internal organ malformations (including those of the heart and the renal tract), growth retardation, and a recognizable facial gestalt (interrupted wavy eyebrows, dense eyelashes, wide nose, wide mouth, and a prominent chin) that is distinct from characteristics of individuals with BRWS. Strikingly, this spectrum overlaps with that of several chromatin-remodeling developmental disorders. In wild-type mouse embryos, β-actin expression was prominent in the kidney, heart, and brain. ACTB mRNA expression levels in lymphoblastic lines and fibroblasts derived from affected individuals were decreased in comparison to those in control cells. Fibroblasts derived from an affected individual and ACTB siRNA knockdown in wild-type fibroblasts showed altered cell shape and migration, consistent with known roles of cytoplasmic β-actin. We also demonstrate that ACTB haploinsufficiency leads to reduced cell proliferation, altered expression of cell-cycle genes, and decreased amounts of nuclear, but not cytoplasmic, β-actin. In conclusion, we show that heterozygous loss-of-function ACTB mutations cause a distinct pleiotropic malformation syndrome with intellectual disability. Our biological studies suggest that a critically reduced amount of this protein alters cell shape, migration, proliferation, and gene expression to the detriment of brain, heart, and kidney development. ispartof: American Journal of Human Genetics vol:101 issue:6 pages:1021-1033 ispartof: location:United States status: published

Published
2017
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189. Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

Author

Létard, Pascaline, Drunat, Séverine, Vial, Yoann, Duerinckx, Sarah, Ernault, Anais, Amram, Daniel, Arpin, Stéphanie, Bertoli, Marta, Busa, Tiffany, Ceulemans, Berten, Desir, Julie, Doco-Fenzy, Martine, Elalaoui, Siham Chafai, Devriendt, Koenraad, Faivre, Laurence, Francannet, Christine, Geneviève, Geneviève, Gitiaux, Cyril, Julia, Sophie, Lebon, Sébastien, Lubala, Toni, Mathieu-Dramard, Michèle, Maurey, Hélène, Metreau, Julia, Nasserereddine, Sanaa, Nizon, Mathilde, Pierquin, Geneviève, Pouvreau, Nathalie, Rivier-Ringenbach, Clothilde, Rossi, Massimiliano, Schaefer, Elise, Sznajer, Yves, Tunca, Yusuf, Guilmin Crepon, Sophie, Alberti, Corinne, Elmaleh-Bergès, Monique, Benzacken, Brigitte, Wollnick, Bernd, Woods, C Geoffrey, Rauch, Anita, El Ghouzzi, Vincent, Gressens, Pierre, Verloes, Alain, Passemard, Sandrine, Geneviève, David, Julia, Julia, Woods, C. Geoffrey, Mordel, S, Schaeffer, Stéphane, Dupas, S., Laville, Marie-Alice, Chapon, Françoise, Allouche, S., Mordel, Patrick, Dupas, Quentin, Reggiani, Claudio, Coppens, Sandra, Sekhara, Tayeb, Dimov, Ivan, Pichon, Bruno, Lufin, Nicolas, Addor, Marie-Claude, Belligni, Elga Fabia, Digilio, Maria Cristina, Faletra, Flavio, Ferrero, Giovanni Battista, Gérard, Marion, Isidor, Bertrand, Joss, Shelagh, Niel-Bütschi, Florence, Perrone, Maria Dolores, Petit, Florence, Renieri, Alessandra, Romana, Serge, Topa, Alexandra, Vermeesch, Joris Robert, Lenaerts, Tom, Casimir, Georges, Abramowicz, Marc, Bontempi, Gianluca, Vilain, Catheline, Deconinck, Nicolas, Smits, Guillaume, Université libre de Bruxelles (ULB), Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), University of Turin, IRCCS Ospedale Pediatrico Bambino Gesù [Roma], Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo' [Trieste], Service de Génétique Clinique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Queen Elizabeth University Hospital (Glasgow), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Università degli Studi di Siena = University of Siena (UNISI), Laboratoire Histologie Embryologie Cytogénétique [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sahlgrenska University Hospital [Gothenburg], Université Catholique de Louvain = Catholic University of Louvain (UCL), Universiteit Gent = Ghent University [Belgium] (UGENT), Hôpital Erasme [Bruxelles] (ULB), Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), AP-HP Hôpital universitaire Robert-Debré [Paris], UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Unité fonctionnelle de génétique clinique, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de génétique [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Antwerp (UA), Institut de Pathologie et Génétique [Gosselies] (I.P.G.), Service de Génétique, Centre Hospitalier Universitaire de Reims (CHU Reims)-Hôpital Maison Blanche-IFR 53, Université de Reims Champagne-Ardenne (URCA)-Université de Reims Champagne-Ardenne (URCA), Centre for Human Genetics, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven)-University Hospitals Leuven [Leuven], Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER, Service de Génétique Médicale [CHU Clermont-Ferrand], CHU Clermont-Ferrand, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS), Service de génétique médicale [Toulouse], CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Service de génétique médicale, CHU Amiens-Picardie, Service Neuropédiatrie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Centre de Génétique Humaine, Université de Liège-CHU Liège, Service de pédiatre-Néonatologie, CH Villefranche s/Saone, Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital de Hautepierre [Strasbourg], Medical Genetics, Epidémiologie Clinique et Evaluation Economique Appliquées aux Populations Vulnérables (ECEVE (U1123 / UMR_S_1123)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital universitaire Robert-Debré [Paris], Service d'imagerie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Département de génétique, Allergy Unit - Department of Dermatology, University of Zürich [Zürich] (UZH), Physiopathologie et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Department of Biology [Utah], University of Utah, Laboratoire Evolution, Génomes et Spéciation (LEGS), Centre National de la Recherche Scientifique (CNRS), Hôpital Côte de Nacre [CHU Caen], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de biochimie [CHU Caen], Signalisation, électrophysiologie et imagerie des lésions d’ischémie-reperfusion myocardique (SEILIRM), Département Génétique Médicale-Maternité, Université de Lorraine (UL), Center for Medical Genetics, Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U1172 Inserm - U837 (JPArc), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Lille Nord de France (COMUE)-Université de Lille, Department of Human Genetics, Radboud University Medical Center [Nijmegen], AI-lab, Vakgroep Computerwetenschappen, Universiteit Gent [Ghent], gerard, marion, Università degli studi di Torino = University of Turin (UNITO), Universiteit Gent = Ghent University (UGENT), and Informatics and Applied Informatics

Subjects
Male, 0301 basic medicine, Guanylate Kinases/genetics, Developmental Disabilities, Intellectual disability, lcsh:Medicine, ASPM, brain imaging, brain development, Tumor Suppressor Proteins -- genetics, Genome, Mice, Intellectual Disability -- genetics -- metabolism, Global developmental delay, Copy-number variation, Promoter Regions, Genetic, Child, Genetics (clinical), Epigenomics, Genetics, ATP6 deletion, Membrane Proteins -- genetics, primary microcephaly, Neurodevelopmental disorders, food and beverages, Functional genomics, Exons, DLG2, Promoters, Animals, Female, Guanylate Kinases, Humans, Intellectual Disability, Membrane Proteins, Tumor Suppressor Proteins, Molecular Medicine, Molecular Biology, Sciences bio-médicales et agricoles, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Guanylate Kinases -- genetics, lcsh:QH426-470, Developmental Disabilities/genetics, Developmental Disabilities/metabolism, Intellectual Disability/genetics, Intellectual Disability/metabolism, Membrane Proteins/genetics, Tumor Suppressor Proteins/genetics, Genomics, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, Promoter Regions, 03 medical and health sciences, Genetic, Complex V deficiency, Next generation sequencing, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Gene, MCPH, Developmental Disabilities -- genetics -- metabolism, Research, lcsh:R, Human genetics, Mitochondrial disease, lcsh:Genetics, 030104 developmental biology, centrosome, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, NARP syndrome
Abstract

Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2017
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190. De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia.

Author

Niemann, Jan Hendrik, Du, Chen, Morlot, Susanne, Schmidt, Gunnar, Auber, Bernd, Kaune, Beate, Göhring, Gudrun, Ripperger, Tim, Schlegelberger, Brigitte, Hofmann, Winfried, Smol, Thomas, Ait‐Yahya, Emilie, Raimbault, Anna, Lambilliotte, Anne, Petit, Florence, and Steinemann, Doris

Subjects
THROMBOCYTOPENIA, EXOMES, GENES, ZIKA Virus Epidemic, 2015-2016, ZIKA virus infections, HUMAN abnormalities
Abstract

We present two independent cases of syndromic thrombocytopenia with multiple malformations, microcephaly, learning difficulties, dysmorphism and other features. Exome sequencing identified two novel de novo heterozygous variants in these patients, c.35G>T p.(Gly12Val) and c.178G>C p.(Gly60Arg), in the RAP1B gene (NM_001010942.2). These variants have not been described previously as germline variants, however functional studies in literature strongly suggest a clinical implication of these two activating hot spot positions. We hypothesize that pathogenic missense variants in the RAP1B gene cause congenital syndromic thrombocytopenia with a spectrum of associated malformations and dysmorphism, possibly through a gain of function mechanism. [ABSTRACT FROM AUTHOR]

Published
2020
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191. Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations.

Author

Jourdain, Anne‐Sophie, Petit, Florence, Odou, Marie‐Françoise, Balduyck, Malika, Brunelle, Perrine, Dufour, William, Boussion, Simon, Brischoux‐Boucher, Elise, Colson, Cindy, Dieux, Anne, Gérard, Marion, Ghoumid, Jamal, Giuliano, Fabienne, Goldenberg, Alice, Khau Van Kien, Philippe, Lehalle, Daphné, Morin, Gilles, Moutton, Sébastien, Smol, Thomas, and Vanlerberghe, Clémence

Abstract

Congenital limb malformations (CLM) comprise many conditions affecting limbs and more than 150 associated genes have been reported. Due to this large heterogeneity, a high proportion of patients remains without a molecular diagnosis. In the last two decades, advances in high throughput sequencing have allowed new methodological strategies in clinical practice. Herein, we report the screening of 52 genes/regulatory sequences by multiplex high‐throughput targeted sequencing, in a series of 352 patients affected with various CLM, over a 3‐year period of time. Patients underwent a clinical triage by expert geneticists in CLM. A definitive diagnosis was achieved in 35.2% of patients, the yield varying considerably, depending on the phenotype. We identified 112 single nucleotide variants and 26 copy‐number variations, of which 52 are novel pathogenic or likely pathogenic variants. In 6% of patients, variants of uncertain significance have been found in good candidate genes. We showed that multiplex targeted high‐throughput sequencing works as an efficient and cost‐effective tool in clinical practice for molecular diagnosis of congenital limb malformations. Careful clinical evaluation of patients may maximize the yield of CLM panel testing. [ABSTRACT FROM AUTHOR]

Published
2020
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192. Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

Author

Vanlerberghe, Clémence, primary, Jourdain, Anne-Sophie, additional, Ghoumid, Jamal, additional, Frenois, Frédéric, additional, Mezel, Aurélie, additional, Vaksmann, Guy, additional, Lenne, Bruno, additional, Delobel, Bruno, additional, Porchet, Nicole, additional, Cormier-Daire, Valérie, additional, Smol, Thomas, additional, Escande, Fabienne, additional, Manouvrier-Hanu, Sylvie, additional, and Petit, Florence, additional

Published
2018
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194. Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

Author

Martin-Brevet, Sandra, primary, Rodríguez-Herreros, Borja, additional, Nielsen, Jared A., additional, Moreau, Clara, additional, Modenato, Claudia, additional, Maillard, Anne M., additional, Pain, Aurélie, additional, Richetin, Sonia, additional, Jønch, Aia E., additional, Qureshi, Abid Y., additional, Zürcher, Nicole R., additional, Conus, Philippe, additional, Chung, Wendy K., additional, Sherr, Elliott H., additional, Spiro, John E., additional, Kherif, Ferath, additional, Beckmann, Jacques S., additional, Hadjikhani, Nouchine, additional, Reymond, Alexandre, additional, Buckner, Randy L., additional, Draganski, Bogdan, additional, Jacquemont, Sébastien, additional, Addor, Marie-Claude, additional, Andrieux, Joris, additional, Arveiler, Benoît, additional, Baujat, Geneviève, additional, Sloan-Béna, Frédérique, additional, Belfiore, Marco, additional, Bonneau, Dominique, additional, Bouquillon, Sonia, additional, Boute, Odile, additional, Brusco, Alfredo, additional, Busa, Tiffany, additional, Caberg, Jean-Hubert, additional, Campion, Dominique, additional, Colombert, Vanessa, additional, Cordier, Marie-Pierre, additional, David, Albert, additional, Debray, François-Guillaume, additional, Delrue, Marie-Ange, additional, Doco-Fenzy, Martine, additional, Dunkhase-Heinl, Ulrike, additional, Edery, Patrick, additional, Fagerberg, Christina, additional, Faivre, Laurence, additional, Forzano, Francesca, additional, Genevieve, David, additional, Gérard, Marion, additional, Giachino, Daniela, additional, Guichet, Agnès, additional, Guillin, Olivier, additional, Héron, Delphine, additional, Isidor, Bertrand, additional, Jacquette, Aurélia, additional, Jaillard, Sylvie, additional, Journel, Hubert, additional, Keren, Boris, additional, Lacombe, Didier, additional, Lebon, Sébastien, additional, Le Caignec, Cédric, additional, Lemaître, Marie-Pierre, additional, Lespinasse, James, additional, Mathieu-Dramart, Michèle, additional, Mercier, Sandra, additional, Mignot, Cyril, additional, Missirian, Chantal, additional, Petit, Florence, additional, Pilekær Sørensen, Kristina, additional, Pinson, Lucile, additional, Plessis, Ghislaine, additional, Prieur, Fabienne, additional, Rooryck-Thambo, Caroline, additional, Rossi, Massimiliano, additional, Sanlaville, Damien, additional, Schlott Kristiansen, Britta, additional, Schluth-Bolard, Caroline, additional, Till, Marianne, additional, Van Haelst, Mieke, additional, Van Maldergem, Lionel, additional, Alupay, Hanalore, additional, Aaronson, Benjamin, additional, Ackerman, Sean, additional, Ankenman, Katy, additional, Anwar, Ayesha, additional, Atwell, Constance, additional, Bowe, Alexandra, additional, Beaudet, Arthur L., additional, Benedetti, Marta, additional, Berg, Jessica, additional, Berman, Jeffrey, additional, Berry, Leandra N., additional, Bibb, Audrey L., additional, Blaskey, Lisa, additional, Brennan, Jonathan, additional, Brewton, Christie M., additional, Buckner, Randy, additional, Bukshpun, Polina, additional, Burko, Jordan, additional, Cali, Phil, additional, Cerban, Bettina, additional, Chang, Yishin, additional, Cheong, Maxwell, additional, Chow, Vivian, additional, Chu, Zili, additional, Chudnovskaya, Darina, additional, Cornew, Lauren, additional, Dale, Corby, additional, Dell, John, additional, Dempsey, Allison G., additional, Deschamps, Trent, additional, Earl, Rachel, additional, Edgar, James, additional, Elgin, Jenna, additional, Olson, Jennifer Endre, additional, Evans, Yolanda L., additional, Findlay, Anne, additional, Fischbach, Gerald D., additional, Fisk, Charlie, additional, Fregeau, Brieana, additional, Gaetz, Bill, additional, Gaetz, Leah, additional, Garza, Silvia, additional, Gerdts, Jennifer, additional, Glenn, Orit, additional, Gobuty, Sarah E., additional, Golembski, Rachel, additional, Greenup, Marion, additional, Heiken, Kory, additional, Hines, Katherine, additional, Hinkley, Leighton, additional, Jackson, Frank I., additional, Jenkins, Julian, additional, Jeremy, Rita J., additional, Johnson, Kelly, additional, Kanne, Stephen M., additional, Kessler, Sudha, additional, Khan, Sarah Y., additional, Ku, Matthew, additional, Kuschner, Emily, additional, Laakman, Anna L., additional, Lam, Peter, additional, Lasala, Morgan W., additional, Lee, Hana, additional, LaGuerre, Kevin, additional, Levy, Susan, additional, Cavanagh, Alyss Lian, additional, Llorens, Ashlie V., additional, Campe, Katherine Loftus, additional, Luks, Tracy L., additional, Marco, Elysa J., additional, Martin, Stephen, additional, Martin, Alastair J., additional, Marzano, Gabriela, additional, Masson, Christina, additional, McGovern, Kathleen E., additional, McNally Keehn, Rebecca, additional, Miller, David T., additional, Miller, Fiona K., additional, Moss, Timothy J., additional, Murray, Rebecca, additional, Nagarajan, Srikantan S., additional, Nowell, Kerri P., additional, Owen, Julia, additional, Paal, Andrea M., additional, Packer, Alan, additional, Page, Patricia Z., additional, Paul, Brianna M., additional, Peters, Alana, additional, Peterson, Danica, additional, Poduri, Annapurna, additional, Pojman, Nicholas J., additional, Porche, Ken, additional, Proud, Monica B., additional, Qasmieh, Saba, additional, Ramocki, Melissa B., additional, Reilly, Beau, additional, Roberts, Timothy P.L., additional, Shaw, Dennis, additional, Sinha, Tuhin, additional, Smith-Packard, Bethanny, additional, Gallagher, Anne Snow, additional, Swarnakar, Vivek, additional, Thieu, Tony, additional, Triantafallou, Christina, additional, Vaughan, Roger, additional, Wakahiro, Mari, additional, Wallace, Arianne, additional, Ward, Tracey, additional, Wenegrat, Julia, additional, and Wolken, Anne, additional

Published
2018
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198. Correction: Corrigendum: Non integrative strategy decreases chromosome instability and improves endogenous pluripotency genes reactivation in porcine induced pluripotent-like stem cells

Author

Congras, Annabelle, primary, Barasc, Harmonie, additional, Canale-Tabet, Kamila, additional, Plisson-Petit, Florence, additional, Delcros, Chantal, additional, Feraud, Olivier, additional, Oudrhiri, Noufissa, additional, Hadadi, Eva, additional, Griscelli, Franck, additional, Bennaceur-Griscelli, Annelise, additional, Turhan, Ali, additional, Afanassieff, Marielle, additional, Ferchaud, Stéphane, additional, Pinton, Alain, additional, Yerle-Bouissou, Martine, additional, and Acloque, Hervé, additional

Published
2018
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199. Germline Loss-of-Function Mutations in EPHB4 cause a Second Form of Capillary Malformation–Arteriovenous Malformation (CM-AVM2) deregulating RAS-MAPK signaling.

Author

UCL - SSS/DDUV - Institut de Duve, UCL - SSS/DDUV/GEHU - Génétique, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de chirurgie plastique, UCL - (SLuc) Centre de malformations vasculaires congénitales, Amyere, Mustapha, Revencu, Nicole, Helaers, Raphaël, Pairet, Eleonore, Baselga, Eulalia, Cordisco, Maria, Chung, Wendy, Dubois, Josée, Lacour, Jean-Philippe, Martorell, Loreto, Mazereeuw-Hautier, Juliette, Pyeritz, Reed E., Amor, David J., Bisdorff, Anouck, Blei, Francine, Bombei, Hannah, Dompmartin, Anne, Brooks, David J., Dupont, Juliette, González-Enseñat, Maria Antonia, Frieden, Ilona, Gerard, Marion, Kvarnung, Malin, Kwan Hanson-Kahn, Andrea, Hudgins, Louanne, Leaute-Labreze, Christine, McCuaig, Catherine, Metry, Denise, Parent, Philippe, Paul, Carle, Petit, Florence, Phan, Alice, Quere, Isabelle, Salhi, Aicha, Turner, Anne, Vabres, Pierre, Vicente, Asuncion, Wargon, Orli, Watanabe, Shoji, Weibel, Lisa, Wilson, Ashley, Willing, Marcia, Mulliken, John B., Boon, Laurence M., Vikkula, Miikka, UCL - SSS/DDUV - Institut de Duve, UCL - SSS/DDUV/GEHU - Génétique, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de chirurgie plastique, UCL - (SLuc) Centre de malformations vasculaires congénitales, Amyere, Mustapha, Revencu, Nicole, Helaers, Raphaël, Pairet, Eleonore, Baselga, Eulalia, Cordisco, Maria, Chung, Wendy, Dubois, Josée, Lacour, Jean-Philippe, Martorell, Loreto, Mazereeuw-Hautier, Juliette, Pyeritz, Reed E., Amor, David J., Bisdorff, Anouck, Blei, Francine, Bombei, Hannah, Dompmartin, Anne, Brooks, David J., Dupont, Juliette, González-Enseñat, Maria Antonia, Frieden, Ilona, Gerard, Marion, Kvarnung, Malin, Kwan Hanson-Kahn, Andrea, Hudgins, Louanne, Leaute-Labreze, Christine, McCuaig, Catherine, Metry, Denise, Parent, Philippe, Paul, Carle, Petit, Florence, Phan, Alice, Quere, Isabelle, Salhi, Aicha, Turner, Anne, Vabres, Pierre, Vicente, Asuncion, Wargon, Orli, Watanabe, Shoji, Weibel, Lisa, Wilson, Ashley, Willing, Marcia, Mulliken, John B., Boon, Laurence M., and Vikkula, Miikka

Abstract

BACKGROUND: Most arteriovenous malformations (AVMs) are localized and occur sporadically. However, they also can be multifocal in autosomal-dominant disorders, such as hereditary hemorrhagic telangiectasia and capillary malformation (CM)-AVM. Previously, we identified RASA1 mutations in 50% of patients with CM-AVM. Herein we studied non-RASA1 patients to further elucidate the pathogenicity of CMs and AVMs. METHODS: We conducted a genome-wide linkage study on a CM-AVM family. Whole-exome sequencing was also performed on 9 unrelated CM-AVM families. We identified a candidate gene and screened it in a large series of patients. The influence of several missense variants on protein function was also studied in vitro. RESULTS: We found evidence for linkage in 2 loci. Whole-exome sequencing data unraveled 4 distinct damaging variants in EPHB4 in 5 families that cosegregated with CM-AVM. Overall, screening of EPHB4 detected 47 distinct mutations in 54 index patients: 27 led to a premature stop codon or splice-site alteration, suggesting loss of function. The other 20 are nonsynonymous variants that result in amino acid substitutions. In vitro expression of several mutations confirmed loss of function of EPHB4. The clinical features included multifocal CMs, telangiectasias, and AVMs. CONCLUSIONS: We found EPHB4 mutations in patients with multifocal CMs associated with AVMs. The phenotype, CM-AVM2, mimics RASA1-related CM-AVM1 and also hereditary hemorrhagic telangiectasia. RASA1-encoded p120RASGAP is a direct effector of EPHB4. Our data highlight the pathogenetic importance of this interaction and indicts EPHB4-RAS-ERK signaling pathway as a major cause for AVMs.

Published
2017

200. Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.

Author

Reggiani, Claudio, Coppens, Sandra, Sekhara, Tayeb, Dimov, Ivan, Pichon, Bruno, Lufin, Nicolas, Addor, Marie Claude, Belligni, Elga Fabia, Digilio, Maria Cristina, Faletra, Flavio, Ferrero, Giovanni Battista, Gerard, Marion, Isidor, Bertrand, Joss, Shelagh, Niel-Bütschi, Florence, Perrone, Maria Dolores, Petit, Florence, Renieri, Alessandra, Romana, Serge, Topa, Alexandra, Vermeesch, Joris Robert, Lenaerts, Tom, Casimir, Georges, Abramowicz, Marc, Bontempi, Gianluca, Vilain, Catheline, Deconinck, Nicolas, Smits, Guillaume, Reggiani, Claudio, Coppens, Sandra, Sekhara, Tayeb, Dimov, Ivan, Pichon, Bruno, Lufin, Nicolas, Addor, Marie Claude, Belligni, Elga Fabia, Digilio, Maria Cristina, Faletra, Flavio, Ferrero, Giovanni Battista, Gerard, Marion, Isidor, Bertrand, Joss, Shelagh, Niel-Bütschi, Florence, Perrone, Maria Dolores, Petit, Florence, Renieri, Alessandra, Romana, Serge, Topa, Alexandra, Vermeesch, Joris Robert, Lenaerts, Tom, Casimir, Georges, Abramowicz, Marc, Bontempi, Gianluca, Vilain, Catheline, Deconinck, Nicolas, and Smits, Guillaume

Abstract

Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2017

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