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1. Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid

Author

Haghshenas, Sadegheh, Putoux, Audrey, Reilly, Jack, Levy, Michael A., Relator, Raissa, Ghosh, Sourav, Kerkhof, Jennifer, McConkey, Haley, Edery, Patrick, Lesca, Gaetan, Besson, Alicia, Coubes, Christine, Willems, Marjolaine, Ruiz-Pallares, Nathalie, Barat-Houari, Mouna, Tizzano, Eduardo F., Valenzuela, Irene, Sabbagh, Quentin, Clayton-Smith, Jill, Jackson, Adam, O’Sullivan, James, Bromley, Rebecca, Banka, Siddharth, Genevieve, David, and Sadikovic, Bekim

Published
2024
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2. Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals

Author

Sabbagh, Quentin, Haghshenas, Sadegheh, Piard, Juliette, Trouvé, Chloé, Amiel, Jeanne, Attié-Bitach, Tania, Balci, Tugce, Barat-Houari, Mouna, Belonis, Alyce, Boute, Odile, Brightman, Diana S., Bruel, Ange-Line, Caraffi, Stefano Giuseppe, Chatron, Nicolas, Collet, Corinne, Dufour, William, Edery, Patrick, Fong, Chin-To, Fusco, Carlo, Gatinois, Vincent, Gouy, Evan, Guerrot, Anne-Marie, Heide, Solveig, Joshi, Aakash, Karp, Natalya, Keren, Boris, Lesieur-Sebellin, Marion, Levy, Jonathan, Levy, Michael A., Lozano, Claire, Lyonnet, Stanislas, Margot, Henri, Marzin, Pauline, McConkey, Haley, Michaud, Vincent, Nicolas, Gaël, Nizard, Mevyn, Paulet, Alix, Peluso, Francesca, Pernin, Vincent, Perrin, Laurence, Philippe, Christophe, Prasad, Chitra, Prasad, Madhavi, Relator, Raissa, Rio, Marlène, Rondeau, Sophie, Ruault, Valentin, Ruiz-Pallares, Nathalie, Sanchez, Elodie, Shears, Debbie, Siu, Victoria Mok, Sorlin, Arthur, Tedder, Matthew, Tharreau, Mylène, Mau-Them, Frédéric Tran, van der Laan, Liselot, Van Gils, Julien, Verloes, Alain, Whalen, Sandra, Willems, Marjolaine, Yauy, Kévin, Zuntini, Roberta, Kerkhof, Jennifer, Sadikovic, Bekim, and Geneviève, David

Published
2024
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4. Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective

Author

Wells, Constance F., Boursier, Guilaine, Yauy, Kevin, Ruiz-Pallares, Nathalie, Mechin, Déborah, Ruault, Valentin, Tharreau, Mylène, Blanchet, Patricia, Pinson, Lucile, Coubes, Christine, Fila, Marc, Baleine, Julien, Pidoux, Odile, Badr, Maliha, Milesi, Christophe, Cambonie, Gilles, Mesnage, Renaud, Dereure, Maëlle, Ardouin, Olivier, Guignard, Thomas, Geneviève, David, Barat-Houari, Mouna, and Willems, Marjolaine

Published
2022
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5. Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

Author

Rouxel, Flavien, Yauy, Kevin, Boursier, Guilaine, Gatinois, Vincent, Barat-Houari, Mouna, Sanchez, Elodie, Lacombe, Didier, Arpin, Stéphanie, Giuliano, Fabienne, Haye, Damien, Rio, Marlène, Toutain, Annick, Dieterich, Klaus, Brischoux-Boucher, Elise, Julia, Sophie, Nizon, Mathilde, Afenjar, Alexandra, Keren, Boris, Jacquette, Aurelia, Moutton, Sebastien, Jacquemont, Marie-Line, Duflos, Claire, Capri, Yline, Amiel, Jeanne, Blanchet, Patricia, Lyonnet, Stanislas, Sanlaville, Damien, and Genevieve, David

Published
2022
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6. CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature

Author

Rouxel, Flavien, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Levy, Michael, Dias, Patricia, Barat-Houari, Mouna, Bednarek, Nathalie, Boute, Odile, Chatron, Nicolas, Cherik, Florian, Delahaye-Duriez, Andrée, Doco-Fenzy, Martine, Faivre, Laurence, Gauthier, Lucas W., Heron, Delphine, Hildebrand, Michael S., Lesca, Gaëtan, Lespinasse, James, Mazel, Benoit, Menke, Leonie A., Morgan, Angela T., Pinson, Lucile, Quelin, Chloe, Rossi, Massimiliano, Ruiz-Pallares, Nathalie, Tran-Mau-Them, Frederic, Van Kessel, Imke N., Vincent, Marie, Weber, Mathys, Willems, Marjolaine, Leguyader, Gwenael, Sadikovic, Bekim, and Genevieve, David

Published
2022
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7. Mosaic EGFR exon 20 in-frame insertion pathogenic variants are associated with papular epidermal naevus with 'skyline' basal cell layer (PENS).

Author

Bessis, Didier, Poujade, Laura, Cossée, Mireille, Boursier, Guilaine, Barat-Houari, Mouna, Tharreau, Mylene, Durand, Luc, Aguilar, Simon-Cabello, Solassol, Jérome, Willems, Marjolaine, and Vendrell, Julie

Subjects
EPIDERMAL growth factor receptors, SOMATIC mutation, NEMALINE myopathy, HAMARTOMA, LEUCOCYTES, SPINOCEREBELLAR ataxia
Abstract

The article discusses a rare skin condition called papular epidermal naevus with 'skyline' basal cell layer (PENS). The authors describe five patients with PENS who had a specific genetic mutation called mosaic EGFR exon 20 in-frame insertion. This mutation was found in skin biopsy samples but not in blood samples, suggesting that it may be a somatic mutation. The authors also note that PENS may be associated with other neurological disorders. The findings suggest that the EGFR exon 20 in-frame insertion mutation could be a specific genetic marker for PENS. [Extracted from the article]

Published
2024
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8. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Author

de Boer, Elke, primary, Ockeloen, Charlotte W., additional, Kampen, Rosalie A., additional, Hampstead, Juliet E., additional, Dingemans, Alexander J.M., additional, Rots, Dmitrijs, additional, Lütje, Lukas, additional, Ashraf, Tazeen, additional, Baker, Rachel, additional, Barat-Houari, Mouna, additional, Angle, Brad, additional, Chatron, Nicolas, additional, Denommé-Pichon, Anne-Sophie, additional, Devinsky, Orrin, additional, Dubourg, Christèle, additional, Elmslie, Frances, additional, Elloumi, Houda Zghal, additional, Faivre, Laurence, additional, Fitzgerald-Butt, Sarah, additional, Geneviève, David, additional, Goos, Jacqueline A.C., additional, Helm, Benjamin M., additional, Kini, Usha, additional, Lasa-Aranzasti, Amaia, additional, Lesca, Gaetan, additional, Lynch, Sally A., additional, Mathijssen, Irene M.J., additional, McGowan, Ruth, additional, Monaghan, Kristin G., additional, Odent, Sylvie, additional, Pfundt, Rolph, additional, Putoux, Audrey, additional, van Reeuwijk, Jeroen, additional, Santen, Gijs W.E., additional, Sasaki, Erina, additional, Sorlin, Arthur, additional, van der Spek, Peter J., additional, Stegmann, Alexander P.A., additional, Swagemakers, Sigrid M.A., additional, Valenzuela, Irene, additional, Viora-Dupont, Eléonore, additional, Vitobello, Antonio, additional, Ware, Stephanie M., additional, Wéber, Mathys, additional, Gilissen, Christian, additional, Low, Karen J., additional, Fisher, Simon E., additional, Vissers, Lisenka E.L.M., additional, Wong, Maggie M.K., additional, and Kleefstra, Tjitske, additional

Published
2023
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9. Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: a series of 20 unreported individuals

Author

Sabbagh, Quentin, primary, Haghshenas, Sadegheh, additional, Piard, Juliette, additional, Trouvé, Chloé, additional, Amiel, Jeanne, additional, Attié-Bitach, Tania, additional, Balci, Tugce, additional, Barat-Houari, Mouna, additional, Belonis, Alyce, additional, Boute, Odile, additional, Brightman, Diana S., additional, Bruel, Ange-Line, additional, Caraffi, Stefano Giuseppe, additional, Chatron, Nicolas, additional, Collet, Corinne, additional, Dufour, William, additional, Edery, Patrick, additional, Fong, Chin-To, additional, Fusco, Carlo, additional, Gatinois, Vincent, additional, Gouy, Evan, additional, Guerrot, Anne-Marie, additional, Heide, Solveig, additional, Joshi, Aakash, additional, Karp, Natalya, additional, Keren, Boris, additional, Lesieur-Sebellin, Marion, additional, Levy, Jonathan, additional, Levy, Michael A., additional, Lozano, Claire, additional, Lyonnet, Stanislas, additional, Margot, Henri, additional, Marzin, Pauline, additional, McConkey, Haley, additional, Michaud, Vincent, additional, Nicolas, Gaël, additional, Nizard, Mevyn, additional, Paulet, Alix, additional, Peluso, Francesca, additional, Pernin, Vincent, additional, Perrin, Laurence, additional, Philippe, Christophe, additional, Prasad, Chitra, additional, Prasad, Madhavi, additional, Relator, Raissa, additional, Rio, Marlène, additional, Rondeau, Sophie, additional, Ruault, Valentin, additional, Ruiz-Pallares, Nathalie, additional, Sanchez, Elodie, additional, Shears, Debbie, additional, Siu, Victoria Mok, additional, Sorlin, Arthur, additional, Tedder, Matthew, additional, Tharreau, Mylène, additional, Mau-Them, Frédéric Tran, additional, van der Laan, Liselot, additional, Van Gils, Julien, additional, Verloes, Alain, additional, Whalen, Sandra, additional, Willems, Marjolaine, additional, Yauy, Kévin, additional, Zuntini, Roberta, additional, Kerkhof, Jennifer, additional, Sadikovic, Bekim, additional, and Geneviève, David, additional

Published
2023
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10. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Author

de Boer, Elke, Ockeloen, Charlotte, Kampen, Rosalie, Hampstead, Juliet, Dingemans, Alexander, Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline, Helm, Benjamin, Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally, Mathijssen, Irene, Mcgowan, Ruth, Monaghan, Kristin, Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs, Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter, Stegmann, Alexander, Swagemakers, Sigrid, Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie, Wéber, Mathys, Gilissen, Christian, Low, Karen, Fisher, Simon, Dingemans, Alexander J.M., Goos, Jacqueline A.C., Mathijssen, Irene M.J., Santen, Gijs W.E., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske, MUMC+: DA KG Lab Specialisten (9), RS: FHML non-thematic output, Pathology, Plastic and Reconstructive Surgery and Hand Surgery, Radboud University [Nijmegen], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hospices Civils de Lyon (HCL), Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), 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 ), FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), 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), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), 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), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, This work was financially supported by Aspasia grants of the Dutch Research Council (015.014.036 to T.K. and 015.014.066 to L.E.L.M.V.), Netherlands Organization for Health Research and Development (91718310 to T.K.), and the Max Planck Society (M.M.K.W., S.E.F.). Individual 4 was sequenced at the Scottish Genomes Partnership. The Scottish Genomes Partnership was funded by the Chief Scientist Office of the Scottish Government Health Directorates (SGP/1) and the Medical Research Council Whole Genome Sequencing for Health and Wealth Initiative (MC/PC/15080). The Deciphering Developmental Disorders study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003). This study makes use of Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (https://www.deciphergenomics.org/), which is funded by Wellcome. See Deciphering Developmental Disorders study8 or https://www.ddduk.org/access.html for full acknowledgment., Institut Català de la Salut, [de Boer E, Dingemans AJM, Rots D] Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands. [Ockeloen CW] Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. [Kampen RA] Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands. [Hampstead JE] Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands. [Lasa-Aranzasti A] Àrea de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca en Medicina Genètica, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain, and Vall d'Hebron Barcelona Hospital Campus

Subjects
Neuroinformatics, Proteasome Endopeptidase Complex, [SDV]Life Sciences [q-bio], fenómenos genéticos::variación genética::mutación::mutación de sentido erróneo [FENÓMENOS Y PROCESOS], Mutation, Missense, Genotype-phenotype study, enfermedades musculoesqueléticas::enfermedades óseas::enfermedades óseas del desarrollo [ENFERMEDADES], Ossos - Malalties - Aspectes genètics, ANKRD11, All institutes and research themes of the Radboud University Medical Center, Missense variants, Intellectual Disability, Other subheadings::Other subheadings::/genetics [Other subheadings], Humans, Genotype–phenotype study, Musculoskeletal Diseases::Bone Diseases::Bone Diseases, Developmental [DISEASES], Abnormalities, Multiple, Genetics (clinical), [SDV.GEN]Life Sciences [q-bio]/Genetics, Bone Diseases, Developmental, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Stomatognathic System Abnormalities::Tooth Abnormalities [DISEASES], Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Otros calificadores::Otros calificadores::/genética [Otros calificadores], Tooth Abnormalities, Neurodevelopmental disorders, Facies, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], KBG syndrome, Repressor Proteins, Anomalies cromosòmiques, Phenotype, enfermedades y anomalías neonatales congénitas y hereditarias::anomalías congénitas::anomalías del sistema estomatognático::anomalías dentarias [ENFERMEDADES], Genetic Phenomena::Genetic Variation::Mutation::Mutation, Missense [PHENOMENA AND PROCESSES], Chromosome Deletion, Dents - Malformacions - Aspectes genètics, Transcription Factors
Abstract

KBG syndrome; Missense variants; Neurodevelopmental disorders Síndrome KBG; Variants de missense; Trastorns del neurodesenvolupament Síndrome KBG; Variantes de missense; Trastornos del neurodesarrollo Purpose Although haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We characterized clinical, molecular, and functional spectra of ANKRD11 missense variants. Methods We collected clinical information of individuals with ANKRD11 missense variants and evaluated phenotypic fit to KBG syndrome. We assessed pathogenicity of variants through in silico analyses and cell-based experiments. Results We identified 20 unique, mostly de novo, ANKRD11 missense variants in 29 individuals, presenting with syndromic neurodevelopmental disorders similar to KBG syndrome caused by ANKRD11 protein truncating variants or 16q24.3 microdeletions. Missense variants significantly clustered in repression domain 2 at the ANKRD11 C-terminus. Of the 10 functionally studied missense variants, 6 reduced ANKRD11 stability. One variant caused decreased proteasome degradation and loss of ANKRD11 transcriptional activity. Conclusion Our study indicates that pathogenic heterozygous ANKRD11 missense variants cause the clinically recognizable KBG syndrome. Disrupted transrepression capacity and reduced protein stability each independently lead to ANKRD11 loss-of-function, consistent with haploinsufficiency. This highlights the diagnostic relevance of ANKRD11 missense variants, but also poses diagnostic challenges because the KBG-associated phenotype may be mild and inherited pathogenic ANKRD11 (missense) variants are increasingly observed, warranting stringent variant classification and careful phenotyping.

Published
2022

11. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

Author

Levy, Michael A., primary, Relator, Raissa, additional, McConkey, Haley, additional, Pranckeviciene, Erinija, additional, Kerkhof, Jennifer, additional, Barat‐Houari, Mouna, additional, Bargiacchi, Sara, additional, Biamino, Elisa, additional, Palomares Bralo, María, additional, Cappuccio, Gerarda, additional, Ciolfi, Andrea, additional, Clarke, Angus, additional, DuPont, Barbara R., additional, Elting, Mariet W., additional, Faivre, Laurence, additional, Fee, Timothy, additional, Ferilli, Marco, additional, Fletcher, Robin S., additional, Cherick, Florian, additional, Foroutan, Aidin, additional, Friez, Michael J., additional, Gervasini, Cristina, additional, Haghshenas, Sadegheh, additional, Hilton, Benjamin A., additional, Jenkins, Zandra, additional, Kaur, Simranpreet, additional, Lewis, Suzanne, additional, Louie, Raymond J., additional, Maitz, Silvia, additional, Milani, Donatella, additional, Morgan, Angela T., additional, Oegema, Renske, additional, Østergaard, Elsebet, additional, Pallares, Nathalie R., additional, Piccione, Maria, additional, Plomp, Astrid S., additional, Poulton, Cathryn, additional, Reilly, Jack, additional, Rius, Rocio, additional, Robertson, Stephen, additional, Rooney, Kathleen, additional, Rousseau, Justine, additional, Santen, Gijs W. E., additional, Santos‐Simarro, Fernando, additional, Schijns, Josephine, additional, Squeo, Gabriella M., additional, John, Miya St, additional, Thauvin‐Robinet, Christel, additional, Traficante, Giovanna, additional, van der Sluijs, Pleuntje J., additional, Vergano, Samantha A., additional, Vos, Niels, additional, Walden, Kellie K., additional, Azmanov, Dimitar, additional, Balci, Tugce B., additional, Banka, Siddharth, additional, Gecz, Jozef, additional, Henneman, Peter, additional, Lee, Jennifer A., additional, Mannens, Marcel M. A. M., additional, Roscioli, Tony, additional, Siu, Victoria, additional, Amor, David J., additional, Baynam, Gareth, additional, Bend, Eric G., additional, Boycott, Kym, additional, Brunetti‐Pierri, Nicola, additional, Campeau, Philippe M., additional, Campion, Dominique, additional, Christodoulou, John, additional, Dyment, David, additional, Esber, Natacha, additional, Fahrner, Jill A., additional, Fleming, Mark D., additional, Genevieve, David, additional, Heron, Delphine, additional, Husson, Thomas, additional, Kernohan, Kristin D., additional, McNeill, Alisdair, additional, Menke, Leonie A., additional, Merla, Giuseppe, additional, Prontera, Paolo, additional, Rockman‐Greenberg, Cheryl, additional, Schwartz, Charles, additional, Skinner, Steven A., additional, Stevenson, Roger E., additional, Vincent, Marie, additional, Vitobello, Antonio, additional, Tartaglia, Marco, additional, Alders, Marielle, additional, Tedder, Matthew L., additional, and Sadikovic, Bekim, additional

Published
2022
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14. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Author

Levy, Michael A., McConkey, Haley, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R., Elting, Mariet W., Faivre, Laurence, Fee, Timothy, Fletcher, Robin S., Cherik, Florian, Foroutan, Aidin, Friez, Michael J., Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A., Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J., Maitz, Silvia, Milani, Donatella, Morgan, Angela T., Oegema, Renske, Ostergaard, Elsebet, Pallares, Nathalie Ruiz, Piccione, Maria, Pizzi, Simone, Plomp, Astrid S., Poulton, Cathryn, Reilly, Jack, Relator, Raissa, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W. E., Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella Maria, St John, Miya, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J., Vergano, Samantha A., Vos, Niels, Walden, Kellie K., Azmanov, Dimitar, Balci, Tugce, Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A., Mannens, Marcel M. A. M., Roscioli, Tony, Siu, Victoria, Amor, David J., Baynam, Gareth, Bend, Eric G., Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M., Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A., Fleming, Mark D., Genevieve, David, Kerrnohan, Kristin D., McNeill, Alisdair, Menke, Leonie A., Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A., Stevenson, Roger E., Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L., Sadikovic, Bekim, Levy, Michael A., McConkey, Haley, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R., Elting, Mariet W., Faivre, Laurence, Fee, Timothy, Fletcher, Robin S., Cherik, Florian, Foroutan, Aidin, Friez, Michael J., Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A., Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J., Maitz, Silvia, Milani, Donatella, Morgan, Angela T., Oegema, Renske, Ostergaard, Elsebet, Pallares, Nathalie Ruiz, Piccione, Maria, Pizzi, Simone, Plomp, Astrid S., Poulton, Cathryn, Reilly, Jack, Relator, Raissa, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W. E., Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella Maria, St John, Miya, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J., Vergano, Samantha A., Vos, Niels, Walden, Kellie K., Azmanov, Dimitar, Balci, Tugce, Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A., Mannens, Marcel M. A. M., Roscioli, Tony, Siu, Victoria, Amor, David J., Baynam, Gareth, Bend, Eric G., Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M., Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A., Fleming, Mark D., Genevieve, David, Kerrnohan, Kristin D., McNeill, Alisdair, Menke, Leonie A., Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A., Stevenson, Roger E., Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L., and Sadikovic, Bekim

Abstract

Overlapping clinical phenotypes and an expanding breadth and complexity of genomic associations are a growing challenge in the diagnosis and clinical management of Mendelian disorders. The functional consequences and clinical impacts of genomic variation may involve unique, disorder-specific, genomic DNA methylation episignatures. In this study, we describe 19 novel episignature disorders and compare the findings alongside 38 previously established episignatures for a total of 57 episignatures associated with 65 genetic syndromes. We demonstrate increasing resolution and specificity ranging from protein complex, gene, sub-gene, protein domain, and even single nucleotide-level Mendelian episignatures. We show the power of multiclass modeling to develop highly accurate and disease-specific diagnostic classifiers. This study significantly expands the number and spectrum of disorders with detectable DNA methylation episignatures, improves the clinical diagnostic capabilities through the resolution of unsolved cases and the reclassification of variants of unknown clinical significance, and provides further insight into the molecular etiology of Mendelian conditions.

Published
2022

15. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

Author

Levy, Michael A., Relator, Raissa, McConkey, Haley, Pranckeviciene, Erinija, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Palomares Bralo, María, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R., Elting, Mariet W., Faivre, Laurence, Fee, Timothy, Ferilli, Marco, Fletcher, Robin S., Cherick, Florian, Foroutan, Aidin, Friez, Michael J., Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A., Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J., Maitz, Silvia, Milani, Donatella, Morgan, Angela T., Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie R., Piccione, Maria, Plomp, Astrid S., Poulton, Cathryn, Reilly, Jack, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W.E., Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella M., John, Miya St, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J., Vergano, Samantha A., Vos, Niels, Walden, Kellie K., Azmanov, Dimitar, Balci, Tugce B., Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A., Mannens, Marcel M.A.M., Roscioli, Tony, Siu, Victoria, Amor, David J., Baynam, Gareth, Bend, Eric G., Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M., Campion, Dominique, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A., Fleming, Mark D., Genevieve, David, Heron, Delphine, Husson, Thomas, Kernohan, Kristin D., McNeill, Alisdair, Menke, Leonie A., Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A., Stevenson, Roger E., Vincent, Marie, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L., Sadikovic, Bekim, Levy, Michael A., Relator, Raissa, McConkey, Haley, Pranckeviciene, Erinija, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Palomares Bralo, María, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R., Elting, Mariet W., Faivre, Laurence, Fee, Timothy, Ferilli, Marco, Fletcher, Robin S., Cherick, Florian, Foroutan, Aidin, Friez, Michael J., Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A., Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J., Maitz, Silvia, Milani, Donatella, Morgan, Angela T., Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie R., Piccione, Maria, Plomp, Astrid S., Poulton, Cathryn, Reilly, Jack, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W.E., Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella M., John, Miya St, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J., Vergano, Samantha A., Vos, Niels, Walden, Kellie K., Azmanov, Dimitar, Balci, Tugce B., Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A., Mannens, Marcel M.A.M., Roscioli, Tony, Siu, Victoria, Amor, David J., Baynam, Gareth, Bend, Eric G., Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M., Campion, Dominique, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A., Fleming, Mark D., Genevieve, David, Heron, Delphine, Husson, Thomas, Kernohan, Kristin D., McNeill, Alisdair, Menke, Leonie A., Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A., Stevenson, Roger E., Vincent, Marie, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L., and Sadikovic, Bekim

Abstract

An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly sensitive, and specific biomarkers that have recently been applied in clinical diagnosis of genetic syndromes. Episignatures are contained within the broader disorder-specific genome-wide DNA methylation changes, which can share significant overlap among different conditions. In this study, we performed functional genomic assessment and comparison of disorder-specific and overlapping genome-wide DNA methylation changes related to 65 genetic syndromes with previously described episignatures. We demonstrate evidence of disorder-specific and recurring genome-wide differentially methylated probes (DMPs) and regions (DMRs). The overall distribution of DMPs and DMRs across the majority of the neurodevelopmental genetic syndromes analyzed showed substantial enrichment in gene promoters and CpG islands, and under-representation of the more variable intergenic regions. Analysis showed significant enrichment of the DMPs and DMRs in gene pathways and processes related to neurodevelopment, including neurogenesis, synaptic signaling and synaptic transmission. This study expands beyond the diagnostic utility of DNA methylation episignatures by demonstrating correlation between the function of the mutated genes and the consequent genomic DNA methylation profiles as a key functional element in the molecular etiology of genetic neurodevelopmental disorders.

Published
2022

16. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

Author

Genetica Klinische Genetica, Brain, Child Health, Levy, Michael A, Relator, Raissa, McConkey, Haley, Pranckeviciene, Erinija, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Bralo, María Palomares, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R, Elting, Mariet W, Faivre, Laurence, Fee, Timothy, Ferilli, Marco, Fletcher, Robin S, Cherick, Florian, Foroutan, Aidin, Friez, Michael J, Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A, Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J, Maitz, Silvia, Milani, Donatella, Morgan, Angela T, Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie Ruiz, Piccione, Maria, Plomp, Astrid S, Poulton, Cathryn, Reilly, Jack, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W E, Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella Maria, John, Miya St, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J, Vergano, Samantha A, Vos, Niels, Walden, Kellie K, Azmanov, Dimitar, Balci, Tugce B, Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A, Mannens, Marcel M A M, Roscioli, Tony, Siu, Victoria, Amor, David J, Baynam, Gareth, Bend, Eric G, Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M, Campion, Dominique, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A, Fleming, Mark D, Genevieve, David, Heron, Delphine, Husson, Thomas, Kernohan, Kristin D, McNeill, Alisdair, Menke, Leonie A, Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A, Stevenson, Roger E, Vincent, Marie, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L, Sadikovic, Bekim, Genetica Klinische Genetica, Brain, Child Health, Levy, Michael A, Relator, Raissa, McConkey, Haley, Pranckeviciene, Erinija, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Bralo, María Palomares, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R, Elting, Mariet W, Faivre, Laurence, Fee, Timothy, Ferilli, Marco, Fletcher, Robin S, Cherick, Florian, Foroutan, Aidin, Friez, Michael J, Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A, Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J, Maitz, Silvia, Milani, Donatella, Morgan, Angela T, Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie Ruiz, Piccione, Maria, Plomp, Astrid S, Poulton, Cathryn, Reilly, Jack, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W E, Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella Maria, John, Miya St, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J, Vergano, Samantha A, Vos, Niels, Walden, Kellie K, Azmanov, Dimitar, Balci, Tugce B, Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A, Mannens, Marcel M A M, Roscioli, Tony, Siu, Victoria, Amor, David J, Baynam, Gareth, Bend, Eric G, Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M, Campion, Dominique, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A, Fleming, Mark D, Genevieve, David, Heron, Delphine, Husson, Thomas, Kernohan, Kristin D, McNeill, Alisdair, Menke, Leonie A, Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A, Stevenson, Roger E, Vincent, Marie, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L, and Sadikovic, Bekim

Published
2022

17. DNA methylation episignature in Gabriele-de Vries syndrome

Author

Cherik, Florian, primary, Reilly, Jack, additional, Kerkhof, Jennifer, additional, Levy, Michael, additional, McConkey, Haley, additional, Barat-Houari, Mouna, additional, Butler, Kameryn M., additional, Coubes, Christine, additional, Lee, Jennifer A., additional, Le Guyader, Gwenael, additional, Louie, Raymond J., additional, Patterson, Wesley G., additional, Tedder, Matthew L., additional, Bak, Mads, additional, Hammer, Trine Bjørg, additional, Craigen, William, additional, Démurger, Florence, additional, Dubourg, Christèle, additional, Fradin, Mélanie, additional, Franciskovich, Rachel, additional, Frengen, Eirik, additional, Friedman, Jennifer, additional, Palares, Nathalie Ruiz, additional, Iascone, Maria, additional, Misceo, Doriana, additional, Monin, Pauline, additional, Odent, Sylvie, additional, Philippe, Christophe, additional, Rouxel, Flavien, additional, Saletti, Veronica, additional, Strømme, Petter, additional, Thulin, Perla Cassayre, additional, Sadikovic, Bekim, additional, and Genevieve, David, additional

Published
2022
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18. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Author

Levy, Michael A., primary, McConkey, Haley, additional, Kerkhof, Jennifer, additional, Barat-Houari, Mouna, additional, Bargiacchi, Sara, additional, Biamino, Elisa, additional, Bralo, María Palomares, additional, Cappuccio, Gerarda, additional, Ciolfi, Andrea, additional, Clarke, Angus, additional, DuPont, Barbara R., additional, Elting, Mariet W., additional, Faivre, Laurence, additional, Fee, Timothy, additional, Fletcher, Robin S., additional, Cherik, Florian, additional, Foroutan, Aidin, additional, Friez, Michael J., additional, Gervasini, Cristina, additional, Haghshenas, Sadegheh, additional, Hilton, Benjamin A., additional, Jenkins, Zandra, additional, Kaur, Simranpreet, additional, Lewis, Suzanne, additional, Louie, Raymond J., additional, Maitz, Silvia, additional, Milani, Donatella, additional, Morgan, Angela T., additional, Oegema, Renske, additional, Østergaard, Elsebet, additional, Pallares, Nathalie Ruiz, additional, Piccione, Maria, additional, Pizzi, Simone, additional, Plomp, Astrid S., additional, Poulton, Cathryn, additional, Reilly, Jack, additional, Relator, Raissa, additional, Rius, Rocio, additional, Robertson, Stephen, additional, Rooney, Kathleen, additional, Rousseau, Justine, additional, Santen, Gijs W.E., additional, Santos-Simarro, Fernando, additional, Schijns, Josephine, additional, Squeo, Gabriella Maria, additional, St John, Miya, additional, Thauvin-Robinet, Christel, additional, Traficante, Giovanna, additional, van der Sluijs, Pleuntje J., additional, Vergano, Samantha A., additional, Vos, Niels, additional, Walden, Kellie K., additional, Azmanov, Dimitar, additional, Balci, Tugce, additional, Banka, Siddharth, additional, Gecz, Jozef, additional, Henneman, Peter, additional, Lee, Jennifer A., additional, Mannens, Marcel M.A.M., additional, Roscioli, Tony, additional, Siu, Victoria, additional, Amor, David J., additional, Baynam, Gareth, additional, Bend, Eric G., additional, Boycott, Kym, additional, Brunetti-Pierri, Nicola, additional, Campeau, Philippe M., additional, Christodoulou, John, additional, Dyment, David, additional, Esber, Natacha, additional, Fahrner, Jill A., additional, Fleming, Mark D., additional, Genevieve, David, additional, Kerrnohan, Kristin D., additional, McNeill, Alisdair, additional, Menke, Leonie A., additional, Merla, Giuseppe, additional, Prontera, Paolo, additional, Rockman-Greenberg, Cheryl, additional, Schwartz, Charles, additional, Skinner, Steven A., additional, Stevenson, Roger E., additional, Vitobello, Antonio, additional, Tartaglia, Marco, additional, Alders, Marielle, additional, Tedder, Matthew L., additional, and Sadikovic, Bekim, additional

Published
2022
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19. Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

Author

Rouxel, Flavien, primary, Yauy, Kevin, additional, Boursier, Guilaine, additional, Gatinois, Vincent, additional, Barat-Houari, Mouna, additional, Sanchez, Elodie, additional, Lacombe, Didier, additional, Arpin, Stéphanie, additional, Giuliano, Fabienne, additional, Haye, Damien, additional, Rio, Marlène, additional, Toutain, Annick, additional, Dieterich, Klaus, additional, Brischoux-Boucher, Elise, additional, Julia, Sophie, additional, Nizon, Mathilde, additional, Afenjar, Alexandra, additional, Keren, Boris, additional, Jacquette, Aurelia, additional, Moutton, Sebastien, additional, Jacquemont, Marie-Line, additional, Duflos, Claire, additional, Capri, Yline, additional, Amiel, Jeanne, additional, Blanchet, Patricia, additional, Lyonnet, Stanislas, additional, Sanlaville, Damien, additional, and Genevieve, David, additional

Published
2021
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21. Erratum: Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders (The American Journal of Human Genetics (2020) 106(3) (356–370), (S0002929720300197), (10.1016/j.ajhg.2020.01.019))

Author

Aref-Eshghi, Erfan, Kerkhof, Jennifer, Pedro, Victor P., France, Groupe D. I., Barat-Houari, Mouna, Ruiz-Pallares, Nathalie, Andrau, Jean-Christophe, Lacombe, Didier, van-Gils, Julien, Fergelot, Patricia, Dubourg, Christéle, Cormier-Daire, Valerie, Rondeau, Sophie, Lecoquierre, François, Saugier-Veber, Pascale, Nicolas, Gaël, Lesca, Gaetan, Chatron, Nicolas, Sanlaville, Damien, Vitobello, Antonio, Faivre, Laurence, Thauvin-Robinet, Christel, Laumonnier, Frederic, Raynaud, Martine, Alders, Mariëlle, Mannens, Marcel, Henneman, Peter, Hennekam, Raoul C., Velasco, Guillaume, Francastel, Claire, Ulveling, Damien, Ciolfi, Andrea, Pizzi, Simone, Tartaglia, Marco, Heide, Solveig, Héron, Delphine, Mignot, Cyril, Keren, Boris, Whalen, Sandra, Afenjar, Alexandra, Bienvenu, Thierry, Campeau, Philippe M., Rousseau, Justine, Levy, Michael A., Brick, Lauren, Kozenko, Mariya, Balci, Tugce B., Siu, Victoria Mok, Stuart, Alan, Kadour, Mike, Masters, Jennifer, Takano, Kyoko, Kleefstra, Tjitske, de Leeuw, Nicole, Field, Michael, Shaw, Marie, Gecz, Jozef, Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Friez, Michael J., Tedder, Matt, Lee, Jennifer A., DuPont, Barbara R., Stevenson, Roger E., Skinner, Steven A., Schwartz, Charles E., Genevieve, David, Sadikovic, Bekim, Human Genetics, ACS - Pulmonary hypertension & thrombosis, Amsterdam Reproduction & Development (AR&D), Amsterdam Gastroenterology Endocrinology Metabolism, General Paediatrics, and APH - Quality of Care

Abstract

(The American Journal of Human Genetics 106, 356–370; March 5, 2020) In the version of this paper originally published, the underlying cause for Hunter McAlpine syndrome was incorrectly described in Table 1. The relevant description has been changed to read “Chr5q35-qter duplication involving NSD1” in the updated Table 1 reflected here. The authors apologize for this error.

Published
2021

23. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Author

Aref-Eshghi, Erfan, primary, Kerkhof, Jennifer, additional, Pedro, Victor P., additional, France, Groupe DI, additional, Barat-Houari, Mouna, additional, Ruiz-Pallares, Nathalie, additional, Andrau, Jean-Christophe, additional, Lacombe, Didier, additional, Van-Gils, Julien, additional, Fergelot, Patricia, additional, Dubourg, Christéle, additional, Cormier-Daire, Valerie, additional, Rondeau, Sophie, additional, Lecoquierre, François, additional, Saugier-Veber, Pascale, additional, Nicolas, Gaël, additional, Lesca, Gaetan, additional, Chatron, Nicolas, additional, Sanlaville, Damien, additional, Vitobello, Antonio, additional, Faivre, Laurence, additional, Thauvin-Robinet, Christel, additional, Laumonnier, Frederic, additional, Raynaud, Martine, additional, Alders, Mariëlle, additional, Mannens, Marcel, additional, Henneman, Peter, additional, Hennekam, Raoul C., additional, Velasco, Guillaume, additional, Francastel, Claire, additional, Ulveling, Damien, additional, Ciolfi, Andrea, additional, Pizzi, Simone, additional, Tartaglia, Marco, additional, Heide, Solveig, additional, Héron, Delphine, additional, Mignot, Cyril, additional, Keren, Boris, additional, Whalen, Sandra, additional, Afenjar, Alexandra, additional, Bienvenu, Thierry, additional, Campeau, Philippe M., additional, Rousseau, Justine, additional, Levy, Michael A., additional, Brick, Lauren, additional, Kozenko, Mariya, additional, Balci, Tugce B., additional, Siu, Victoria Mok, additional, Stuart, Alan, additional, Kadour, Mike, additional, Masters, Jennifer, additional, Takano, Kyoko, additional, Kleefstra, Tjitske, additional, de Leeuw, Nicole, additional, Field, Michael, additional, Shaw, Marie, additional, Gecz, Jozef, additional, Ainsworth, Peter J., additional, Lin, Hanxin, additional, Rodenhiser, David I., additional, Friez, Michael J., additional, Tedder, Matt, additional, Lee, Jennifer A., additional, DuPont, Barbara R., additional, Stevenson, Roger E., additional, Skinner, Steven A., additional, Schwartz, Charles E., additional, Genevieve, David, additional, and Sadikovic, Bekim, additional

Published
2021
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26. Missense variants in ANKRD11cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Author

de Boer, Elke, Ockeloen, Charlotte W., Kampen, Rosalie A., Hampstead, Juliet E., Dingemans, Alexander J.M., Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A., Mathijssen, Irene M.J., McGowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M., Wéber, Mathys, Gilissen, Christian, Low, Karen J., Fisher, Simon E., Vissers, Lisenka E.L.M., Wong, Maggie M.K., and Kleefstra, Tjitske

Abstract

Although haploinsufficiency of ANKRD11is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11missense variation remains unclear. We characterized clinical, molecular, and functional spectra of ANKRD11missense variants.

Published
2022
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28. Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis

Author

Ruault, Valentin, primary, Yauy, Kevin, additional, Fabre, Aurélie, additional, Fradin, Mélanie, additional, Van-Gils, Julien, additional, Angelini, Chloé, additional, Baujat, Geneviève, additional, Blanchet, Patricia, additional, Cuinat, Silvestre, additional, Isidor, Bertrand, additional, Jorgensen, Christian, additional, Lacombe, Didier, additional, Moutton, Sébastien, additional, Odent, Sylvie, additional, Sanchez, Elodie, additional, Sigaudy, Sabine, additional, Touitou, Isabelle, additional, Willems, Marjolaine, additional, Apparailly, Florence, additional, Geneviève, David, additional, and Barat-Houari, Mouna, additional

Published
2020
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29. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Author

Aref-Eshghi, Erfan, primary, Kerkhof, Jennifer, additional, Pedro, Victor P., additional, Barat-Houari, Mouna, additional, Ruiz-Pallares, Nathalie, additional, Andrau, Jean-Christophe, additional, Lacombe, Didier, additional, Van-Gils, Julien, additional, Fergelot, Patricia, additional, Dubourg, Christèle, additional, Cormier-Daire, Valerie, additional, Rondeau, Sophie, additional, Lecoquierre, François, additional, Saugier-Veber, Pascale, additional, Nicolas, Gaël, additional, Lesca, Gaetan, additional, Chatron, Nicolas, additional, Sanlaville, Damien, additional, Vitobello, Antonio, additional, Faivre, Laurence, additional, Thauvin-Robinet, Christel, additional, Laumonnier, Frederic, additional, Raynaud, Martine, additional, Alders, Mariëlle, additional, Mannens, Marcel, additional, Henneman, Peter, additional, Hennekam, Raoul C., additional, Velasco, Guillaume, additional, Francastel, Claire, additional, Ulveling, Damien, additional, Ciolfi, Andrea, additional, Pizzi, Simone, additional, Tartaglia, Marco, additional, Heide, Solveig, additional, Héron, Delphine, additional, Mignot, Cyril, additional, Keren, Boris, additional, Whalen, Sandra, additional, Afenjar, Alexandra, additional, Bienvenu, Thierry, additional, Campeau, Philippe M., additional, Rousseau, Justine, additional, Levy, Michael A., additional, Brick, Lauren, additional, Kozenko, Mariya, additional, Balci, Tugce B., additional, Siu, Victoria Mok, additional, Stuart, Alan, additional, Kadour, Mike, additional, Masters, Jennifer, additional, Takano, Kyoko, additional, Kleefstra, Tjitske, additional, de Leeuw, Nicole, additional, Field, Michael, additional, Shaw, Marie, additional, Gecz, Jozef, additional, Ainsworth, Peter J., additional, Lin, Hanxin, additional, Rodenhiser, David I., additional, Friez, Michael J., additional, Tedder, Matt, additional, Lee, Jennifer A., additional, DuPont, Barbara R., additional, Stevenson, Roger E., additional, Skinner, Steven A., additional, Schwartz, Charles E., additional, Genevieve, David, additional, and Sadikovic, Bekim, additional

Published
2020
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30. Growth charts in Kabuki syndrome 1

Author

Ruault, Valentin, primary, Corsini, Carole, additional, Duflos, Claire, additional, Akouete, Sandrine, additional, Georgescu, Véra, additional, Abaji, Mario, additional, Alembick, Yves, additional, Alix, Eudeline, additional, Amiel, Jeanne, additional, Amouroux, Cyril, additional, Barat‐Houari, Mouna, additional, Baumann, Clarisse, additional, Bonnard, Adeline, additional, Boursier, Guilaine, additional, Boute, Odile, additional, Burglen, Lydie, additional, Busa, Tiffany, additional, Cordier, Marie‐Pierre, additional, Cormier‐Daire, Valérie, additional, Delrue, Marie‐Ange, additional, Doray, Bérénice, additional, Faivre, Laurence, additional, Fradin, Mélanie, additional, Gilbert‐Dussardier, Brigitte, additional, Giuliano, Fabienne, additional, Goldenberg, Alice, additional, Gorokhova, Svetlana, additional, Héron, Delphine, additional, Isidor, Bertrand, additional, Jacquemont, Marie‐Line, additional, Jacquette, Aurélia, additional, Jeandel, Claire, additional, Lacombe, Didier, additional, Le Merrer, Martine, additional, Sang, Kim Hanh Le Quan, additional, Lyonnet, Stanislas, additional, Manouvrier, Sylvie, additional, Michot, Caroline, additional, Moncla, Anne, additional, Moutton, Sébastien, additional, Odent, Sylvie, additional, Pelet, Anna, additional, Philip, Nicole, additional, Pinson, Lucile, additional, Reversat, Julie, additional, Roume, Joëlle, additional, Sanchez, Elodie, additional, Sanlaville, Damien, additional, Sarda, Pierre, additional, Schaefer, Elise, additional, Till, Marianne, additional, Touitou, Isabelle, additional, Toutain, Annick, additional, Willems, Marjolaine, additional, Gatinois, Vincent, additional, and Geneviève, David, additional

Published
2019
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32. Analysis of sequence variability in the CART gene in relation to obesity in a Caucasian population

Author

Hercberg Serge, Galan Pilar, Bell Christopher G, Vasseur-Delannoy Valérie, Eberlé Delphine, Clément Karine, Vatin Vincent, Dina Christian, Vasseur Francis, Barat-Houari Mouna, Guérardel Audrey, Helbecque Nicole, Potoczna Natascha, Horber Fritz F, Boutin Philippe, and Froguel Philippe

Subjects
Genetics, QH426-470
Abstract

Abstract Background Cocaine and amphetamine regulated transcript (CART) is an anorectic neuropeptide located principally in hypothalamus. CART has been shown to be involved in control of feeding behavior, but a direct relationship with obesity has not been established. The aim of this study was to evaluate the effect of polymorphisms within the CART gene with regards to a possible association with obesity in a Caucasian population. Results Screening of the entire gene as well as a 3.7 kb region of 5' upstream sequence revealed 31 SNPs and 3 rare variants ; 14 of which were subsequently genotyped in 292 French morbidly obese subjects and 368 controls. Haplotype analysis suggested an association with obesity which was found to be mainly due to SNP-3608T>C (rs7379701) (p = 0.009). Genotyping additional cases and controls also of European Caucasian origin supported further this possible association between the CART SNP -3608T>C T allele and obesity (global p-value = 0.0005). Functional studies also suggested that the SNP -3608T>C could modulate nuclear protein binding. Conclusion CART SNP -3608T>C may possibly contribute to the genetic risk for obesity in the Caucasian population. However confirmation of the importance of the role of the CART gene in energy homeostasis and obesity will require investigation and replication in further populations.

Published
2005
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33. Growth charts in Kabuki syndrome 1.

Author

Ruault, Valentin, Corsini, Carole, Duflos, Claire, Akouete, Sandrine, Georgescu, Véra, Abaji, Mario, Alembick, Yves, Alix, Eudeline, Amiel, Jeanne, Amouroux, Cyril, Barat‐Houari, Mouna, Baumann, Clarisse, Bonnard, Adeline, Boursier, Guilaine, Boute, Odile, Burglen, Lydie, Busa, Tiffany, Cordier, Marie‐Pierre, Cormier‐Daire, Valérie, and Delrue, Marie‐Ange

Abstract

Kabuki syndrome (KS, KS1: OMIM 147920 and KS2: OMIM 300867) is caused by pathogenic variations in KMT2D or KDM6A. KS is characterized by multiple congenital anomalies and neurodevelopmental disorders. Growth restriction is frequently reported. Here we aimed to create specific growth charts for individuals with KS1, identify parameters used for size prognosis and investigate the impact of growth hormone therapy on adult height. Growth parameters and parental size were obtained for 95 KS1 individuals (41 females). Growth charts for height, weight, body mass index (BMI) and occipitofrontal circumference were generated in standard deviation values for the first time in KS1. Statural growth of KS1 individuals was compared to parental target size. According to the charts, height, weight, BMI, and occipitofrontal circumference were lower for KS1 individuals than the normative French population. For males and females, the mean growth of KS1 individuals was −2 and −1.8 SD of their parental target size, respectively. Growth hormone therapy did not increase size beyond the predicted size. This study, from the largest cohort available, proposes growth charts for widespread use in the management of KS1, especially for size prognosis and screening of other diseases responsible for growth impairment beyond a calculated specific target size. [ABSTRACT FROM AUTHOR]

Published
2020
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34. B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation

Author

Yauy, Kevin, primary, Tran Mau-Them, Frederic, additional, Willems, Marjolaine, additional, Coubes, Christine, additional, Blanchet, Patricia, additional, Herlin, Christian, additional, Taleb Arrada, Ikram, additional, Sanchez, Elodie, additional, Faure, Jean-Michel, additional, Le Gac, Marie-Pascale, additional, Prodhomme, Olivier, additional, Boland, Anne, additional, Meyer, Vincent, additional, Rivière, Jean-Baptiste, additional, Duffourd, Yannis, additional, Deleuze, Jean-François, additional, Guignard, Thomas, additional, Captier, Guillaume, additional, Barat-Houari, Mouna, additional, and Genevieve, David, additional

Published
2018
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35. Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling

Author

Barat-Houari, Mouna, Geneviève, Geneviève, Tran Mau Them, Frédéric, Fabre, Aurélie, Geneviève, David, Touitou, Isabelle, Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), and CHU Montpellier

Subjects
[SDV]Life Sciences [q-bio], ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2016

36. Missense variants in ANKRD11cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Author

de Boer, Elke, Ockeloen, Charlotte W., Kampen, Rosalie A., Hampstead, Juliet E., Dingemans, Alexander J.M., Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A., Mathijssen, Irene M.J., McGowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M., Wéber, Mathys, Gilissen, Christian, Low, Karen J., Fisher, Simon E., Vissers, Lisenka E.L.M., Wong, Maggie M.K., and Kleefstra, Tjitske

Published
2023
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37. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Author

Boegershausen, Nina, Gatinois, Vincent, Riehmer, Vera, Kayserili, Huelya, Becker, Jutta, Thoenes, Michaela, Simsek-Kiper, Pelin OEzlem, Barat-Houari, Mouna, Elcioglu, Nursel H., Wieczorek, Dagmar, Tinschert, Sigrid, Sarrabay, Guillaume, Strom, Tim M., Fabre, Aurelie, Baynam, Gareth, Sanchez, Elodie, Nuernberg, Gudrun, Altunoglu, Umut, Capri, Yline, Isidor, Bertrand, Lacombe, Didier, Corsini, Carole, Cormier-Daire, Valerie, Sanlaville, Damien, Giuliano, Fabienne, Le Quan Sang, Kim-Hanh, Kayirangwa, Honorine, Nuernberg, Peter, Meitinger, Thomas, Boduroglu, Koray, Zoll, Barbara, Lyonnet, Stanislas, Tzschach, Andreas, Verloes, Alain, Di Donato, Nataliya, Touitou, Isabelle, Netzer, Christian, Li, Yun, Genevieve, David, Yigit, Goekhan, Wollnik, Bernd, Boegershausen, Nina, Gatinois, Vincent, Riehmer, Vera, Kayserili, Huelya, Becker, Jutta, Thoenes, Michaela, Simsek-Kiper, Pelin OEzlem, Barat-Houari, Mouna, Elcioglu, Nursel H., Wieczorek, Dagmar, Tinschert, Sigrid, Sarrabay, Guillaume, Strom, Tim M., Fabre, Aurelie, Baynam, Gareth, Sanchez, Elodie, Nuernberg, Gudrun, Altunoglu, Umut, Capri, Yline, Isidor, Bertrand, Lacombe, Didier, Corsini, Carole, Cormier-Daire, Valerie, Sanlaville, Damien, Giuliano, Fabienne, Le Quan Sang, Kim-Hanh, Kayirangwa, Honorine, Nuernberg, Peter, Meitinger, Thomas, Boduroglu, Koray, Zoll, Barbara, Lyonnet, Stanislas, Tzschach, Andreas, Verloes, Alain, Di Donato, Nataliya, Touitou, Isabelle, Netzer, Christian, Li, Yun, Genevieve, David, Yigit, Goekhan, and Wollnik, Bernd

Abstract

Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, short stature, various organ malformations, and a variable degree of intellectual disability. Mutations in KMT2D have been identified as the main cause for KS, whereas mutations in KDM6A are a much less frequent cause. Here, we report a mutation screening in a case series of 347 unpublished patients, in which we identified 12 novel KDM6A mutations (KS type 2) and 208 mutations in KMT2D (KS type 1), 132 of them novel. Two of the KDM6A mutations were maternally inherited and nine were shown to be de novo. We give an up-to-date overview of all published mutations for the two KS genes and point out possible mutation hot spots and strategies for molecular genetic testing. We also report the clinical details for 11 patients with KS type 2, summarize the published clinical information, specifically with a focus on the less well-defined X-linked KS type 2, and comment on phenotype-genotype correlations as well as sex-specific phenotypic differences. Finally, we also discuss a possible role of KDM6A in Kabuki-like Turner syndrome and report a mutation screening of KDM6C (UTY) in male KS patients.

Published
2016

38. Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Author

Bögershausen, Nina, primary, Gatinois, Vincent, additional, Riehmer, Vera, additional, Kayserili, Hülya, additional, Becker, Jutta, additional, Thoenes, Michaela, additional, Simsek-Kiper, Pelin Özlem, additional, Barat-Houari, Mouna, additional, Elcioglu, Nursel H., additional, Wieczorek, Dagmar, additional, Tinschert, Sigrid, additional, Sarrabay, Guillaume, additional, Strom, Tim M., additional, Fabre, Aurélie, additional, Baynam, Gareth, additional, Sanchez, Elodie, additional, Nürnberg, Gudrun, additional, Altunoglu, Umut, additional, Capri, Yline, additional, Isidor, Bertrand, additional, Lacombe, Didier, additional, Corsini, Carole, additional, Cormier-Daire, Valérie, additional, Sanlaville, Damien, additional, Giuliano, Fabienne, additional, Le Quan Sang, Kim-Hanh, additional, Kayirangwa, Honorine, additional, Nürnberg, Peter, additional, Meitinger, Thomas, additional, Boduroglu, Koray, additional, Zoll, Barbara, additional, Lyonnet, Stanislas, additional, Tzschach, Andreas, additional, Verloes, Alain, additional, Di Donato, Nataliya, additional, Touitou, Isabelle, additional, Netzer, Christian, additional, Li, Yun, additional, Geneviève, David, additional, Yigit, Gökhan, additional, and Wollnik, Bernd, additional

Published
2016
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39. The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

Author

Barat-Houari, Mouna, primary, Dumont, Bruno, additional, Fabre, Aurélie, additional, Them, Frédéric TM, additional, Alembik, Yves, additional, Alessandri, Jean-Luc, additional, Amiel, Jeanne, additional, Audebert, Séverine, additional, Baumann-Morel, Clarisse, additional, Blanchet, Patricia, additional, Bieth, Eric, additional, Brechard, Marie, additional, Busa, Tiffany, additional, Calvas, Patrick, additional, Capri, Yline, additional, Cartault, François, additional, Chassaing, Nicolas, additional, Ciorca, Vidrica, additional, Coubes, Christine, additional, David, Albert, additional, Delezoide, Anne-Lise, additional, Dupin-Deguine, Delphine, additional, El Chehadeh, Salima, additional, Faivre, Laurence, additional, Giuliano, Fabienne, additional, Goldenberg, Alice, additional, Isidor, Bertrand, additional, Jacquemont, Marie-Line, additional, Julia, Sophie, additional, Kaplan, Josseline, additional, Lacombe, Didier, additional, Lebrun, Marine, additional, Marlin, Sandrine, additional, Martin-Coignard, Dominique, additional, Martinovic, Jelena, additional, Masurel, Alice, additional, Melki, Judith, additional, Mozelle-Nivoix, Monique, additional, Nguyen, Karine, additional, Odent, Sylvie, additional, Philip, Nicole, additional, Pinson, Lucile, additional, Plessis, Ghislaine, additional, Quélin, Chloé, additional, Shaeffer, Elise, additional, Sigaudy, Sabine, additional, Thauvin, Christel, additional, Till, Marianne, additional, Touraine, Renaud, additional, Vigneron, Jacqueline, additional, Baujat, Geneviève, additional, Cormier-Daire, Valérie, additional, Le Merrer, Martine, additional, Geneviève, David, additional, and Touitou, Isabelle, additional

Published
2015
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42. Analysis of sequence variability in the CART gene in relation to obesity in a Caucasian population

Author

Guérardel, Audrey, Barat-Houari, Mouna, Vasseur, Francis, Dina, Christian, Vatin, Vincent, Clément, Karine, Eberlé, Delphine, Vasseur-Delannoy, Valérie, Bell, Christopher, Galan, Pilar, Hercberg, Serge, Helbecque, Nicole, Potoczna, Natascha, Horber, Fritz, Boutin, Philippe, Froguel, Philippe, Génétique des maladies multifactorielles (GMM), Université de Lille, Droit et Santé-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Déterminants Biologiques et Comportementaux des Obésités, Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôtel-Dieu-EA3502, Genome Centre, Imperial College London-Hammersmith campus, Unité de Recherche en Epidémiologie Nutritionnelle (UREN), Université Paris 13 (UP13)-Institut National de la Recherche Agronomique (INRA)-Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Epidémiologie des maladies chroniques: impact des intéractions gène environnement sur la santé des populations, Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Dr. Horber Adipositas Stiftung, This research was supported in part by Pasteur Institute Lille and Region Nord-Pas de Calais with regards Audrey Guérardel and in part by the European Community Project NUGENOB (QLRTCT- 2000-00618, http://www.nugenob.com). The recruitment of French morbidly obese subjects was supported by the Direction de la Recherche Clinique/Assistance Publique-Hopitaux de Paris, the Programme Hospitalier de Recherche Clinique (AOM 96088)., Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Sorbonne Paris Cité (USPC)-Université Paris 13 (UP13)-Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Institut National de la Recherche Agronomique (INRA), Maylin, Françoise, Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôtel-Dieu-EA3502, and Université Paris 13 (UP13)-Institut National de la Recherche Agronomique (INRA)-Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
lcsh:QH426-470, Genotype, European Continental Ancestry Group, Nerve Tissue Proteins, [SDV.GEN] Life Sciences [q-bio]/Genetics, MESH: Base Sequence, Research Support, MESH: Research Support, Non-U.S. Gov't, Polymorphism, Single Nucleotide, White People, MESH: Genotype, Genetic, Risk Factors, MESH: Risk Factors, MESH: Polymorphism, Genetic, Food and Nutrition, Humans, MESH: Obesity, Obesity, MESH: Nerve Tissue Proteins, Polymorphism, Non-U.S. Gov't, [SDV.GEN]Life Sciences [q-bio]/Genetics, Polymorphism, Genetic, MESH: Humans, Base Sequence, MESH: Polymorphism, Single Nucleotide, SDV:GEN, Case-Control Studies, Single Nucleotide, MESH: European Continental Ancestry Group, MESH: Case-Control Studies, lcsh:Genetics, [SDV.AEN] Life Sciences [q-bio]/Food and Nutrition, Alimentation et Nutrition, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition, Research Article
Abstract

Background Cocaine and amphetamine regulated transcript (CART) is an anorectic neuropeptide located principally in hypothalamus. CART has been shown to be involved in control of feeding behavior, but a direct relationship with obesity has not been established. The aim of this study was to evaluate the effect of polymorphisms within the CART gene with regards to a possible association with obesity in a Caucasian population. Results Screening of the entire gene as well as a 3.7 kb region of 5' upstream sequence revealed 31 SNPs and 3 rare variants ; 14 of which were subsequently genotyped in 292 French morbidly obese subjects and 368 controls. Haplotype analysis suggested an association with obesity which was found to be mainly due to SNP-3608T>C (rs7379701) (p = 0.009). Genotyping additional cases and controls also of European Caucasian origin supported further this possible association between the CART SNP -3608T>C T allele and obesity (global p-value = 0.0005). Functional studies also suggested that the SNP -3608T>C could modulate nuclear protein binding. Conclusion CART SNP -3608T>C may possibly contribute to the genetic risk for obesity in the Caucasian population. However confirmation of the importance of the role of the CART gene in energy homeostasis and obesity will require investigation and replication in further populations.

Published
2005

43. Dysspondyloenchondromatosis withoutCOL2A1mutation: Possible genetic heterogeneity

Author

Tran Mau-Them, Frédéric, primary, Boualam, Aurélia, additional, Barat-Houari, Mouna, additional, Jeandel, Claire, additional, Cottalorda, Jérôme, additional, Cormier-Daire, Valérie, additional, Fabre, Aurélie, additional, Dumont, Bruno, additional, Lefort, Geneviève, additional, Baujat, Geneviève, additional, Le Merrer, Martine, additional, Jorgensen, Christian, additional, Touitou, Isabelle, additional, and Geneviève, David, additional

Published
2013
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47. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Author

Bögershausen, Nina, Gatinois, Vincent, Riehmer, Vera, Kayserili, Hülya, Becker, Jutta, Thoenes, Michaela, Simsek‐Kiper, Pelin Özlem, Barat‐Houari, Mouna, Elcioglu, Nursel H., Wieczorek, Dagmar, Tinschert, Sigrid, Sarrabay, Guillaume, Strom, Tim M., Fabre, Aurélie, Baynam, Gareth, Sanchez, Elodie, Nürnberg, Gudrun, Altunoglu, Umut, Capri, Yline, and Isidor, Bertrand

Abstract

Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, short stature, various organ malformations, and a variable degree of intellectual disability. Mutations in KMT2D have been identified as the main cause for KS, whereas mutations in KDM6A are a much less frequent cause.Here, we report a mutation screening in a case series of 347 unpublished patients, in which we identified 12 novel KDM6A mutations (KS type 2) and 208 mutations in KMT2D (KS type 1), 132 of them novel. Two of the KDM6A mutations were maternally inherited and nine were shown to be de novo. We give an up-to-date overview of all published mutations for the two KS genes and point out possible mutation hot spots and strategies for molecular genetic testing. We also report the clinical details for 11 patients with KS type 2, summarize the published clinical information, specifically with a focus on the less well-defined X-linked KS type 2, and comment on phenotype--genotype correlations as well as sex-specific phenotypic differences. Finally, we also discuss a possible role of KDM6A in Kabuki-like Turner syndrome and report a mutation screening of KDM6C (UTY) in male KS patients. [ABSTRACT FROM AUTHOR]

Published
2016
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48. Concordance of two multiple analytical approaches demonstrate that interaction between BMI and ADIPOQ haplotypes is a determinant of LDL cholesterol in a general French population

Author

Vasseur, Francis, primary, Caeyseele, Thomas, additional, Barat-Houari, Mouna, additional, Lobbens, Stéphane, additional, Meirhaeghe, Aline, additional, Meyre, David, additional, Froguel, Philippe, additional, Amouyel, Philippe, additional, and Helbecque, Nicole, additional

Published
2010
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49. New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?

Author

Barat-Houari, Mouna, primary, Nguyen, Karine, additional, Bernard, Rafaëlle, additional, Fernandez, Céline, additional, Vovan, Catherine, additional, Bareil, Corinne, additional, Van Kien, Philippe Khau, additional, Thorel, Delphine, additional, Tuffery-Giraud, Sylvie, additional, Vasseur, Francis, additional, Attarian, Shahram, additional, Pouget, Jean, additional, Girardet, Anne, additional, Lévy, Nicolas, additional, and Claustres, Mireille, additional

Published
2009
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