144 results on '"Sigaudy Sabine"'
Search Results
102. BBS10 mutations are frequent in 'Meckel' type cystic kidneys
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Putoux, Audrey, Mougou-Zerelli, Soumaya, Thomas, Sophie, Elkhartoufi, Nadia, Audollent, Sophie, Le Merrer, Martine, Lachmeijer, Augusta, Sigaudy, Sabine, Buenerd, Annie, Fernandez, Carla, Delezoide, Anne-Lise, Gubler, Marie-Claire, Salomon, Rémi, Saad, Ali, Cordier, Marie-Pierre, Vekemans, Michel, Bouvier, Raymonde, Attié-Bitach, Tania, Service de néphrologie pédiatrique [CHU Necker], CHU Necker - Enfants Malades [AP-HP] - Assistance publique - Hôpitaux de Paris (AP-HP), Hôpital Farhat Hached, Sousse, VU University Medical Center [Amsterdam], Hôpital de la Timone [CHU - APHM] (TIMONE), Centre de Pathologie Est, Lyon, Hôpital Robert Debré, Paris, Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
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congenital, hereditary, and neonatal diseases and abnormalities ,Renal Medicine ,Obstetrics and Gynaecology ,Genetic screening/counselling ,Molecular genetics - Abstract
International audience; Background : Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, multisystemic disorder characterized by progressive retinal dystrophy, obesity, hypogenitalism, learning difficulties, renal abnormalities and postaxial polydactyly, with only the last two antenatally observable. BBS is inherited as an autosomal recessive disorder and 14 genes have been identified to date (BBS1-BBS14). In addition, a complex digenic inheritance has been established in some families. Mutations of the BBS10 gene on chromosome 12q21.2 account for 20% of BBS cases. Methods: Given the fact that mutations in BBS genes have already been found in Meckel-like fetuses, and in light of the major contribution of BBS10 to BBS, we sequenced the BBS10 gene in 20 fetal cases and a child diagnosed antenatally presenting characteristic renal anomalies and polydactyly, but without biliary dysgenesis. Results: We identified recessive mutations at the BBS10 locus in 5 cases, 4 fetuses and a child. Interestingly, one of them had situs ambiguus, a rare feature in BBS. In the child, BBS genes screening identified a heterozygous BBS6 nonsense mutation in addition to the homozygous BBS10 mutation, in accordance with the suggested multigenic inheritance of the disease. Conclusions: These results confirm that BBS is underdiagnosed antenatally, and should systematically be suspected in fetuses with severe cystic kidneys leading to oligoamnios and fetal or perinatal death. Moreover, this study confirms the high frequency of BBS10 mutations and particularly of the p.Cys91Leufs*5 allele, including in severe lethal cases.
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- 2010
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103. Mutations of the ImprintedCDKN1CGene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization
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Brioude, Frederic, primary, Netchine, Irène, additional, Praz, Francoise, additional, Le Jule, Marilyne, additional, Calmel, Claire, additional, Lacombe, Didier, additional, Edery, Patrick, additional, Catala, Martin, additional, Odent, Sylvie, additional, Isidor, Bertrand, additional, Lyonnet, Stanislas, additional, Sigaudy, Sabine, additional, Leheup, Bruno, additional, Audebert-Bellanger, Séverine, additional, Burglen, Lydie, additional, Giuliano, Fabienne, additional, Alessandri, Jean-Luc, additional, Cormier-Daire, Valérie, additional, Laffargue, Fanny, additional, Blesson, Sophie, additional, Coupier, Isabelle, additional, Lespinasse, James, additional, Blanchet, Patricia, additional, Boute, Odile, additional, Baumann, Clarisse, additional, Polak, Michel, additional, Doray, Berenice, additional, Verloes, Alain, additional, Viot, Géraldine, additional, Le Bouc, Yves, additional, and Rossignol, Sylvie, additional
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- 2015
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104. Schimke immunoosseous dysplasia: defining skeletal features
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Hunter, Kshamta B. Luecke, Thomas Spranger, Juergen and Smithson, Sarah F. Alpay, Harika Andre, Jean-Luc Asakura, Yumi Bogdanovic, Radovan Bonneau, Dominique Cairns, Robyn and Cransberg, Karlien Fruend, Stefan Fryssira, Helen and Goodman, David Helmke, Knut Hinkelmann, Barbara Lama, Guiliana Lamfers, Petra Loirat, Chantal Majore, Silvia and Mayfield, Christy Pontz, Bertram F. Rusu, Cristina Saraiva, Jorge M. Schmidt, Beate Shoemaker, Lawrence Sigaudy, Sabine and Stajic, Natasa Taha, Doris Boerkoel, Cornelius F.
- Abstract
Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis. Biallelic mutations in swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD, but approximately half of patients referred for molecular studies do not have detectable mutations in SMARCAL1. We hypothesized that skeletal features distinguish between those with or without SMARCAL1 mutations. Therefore, we analyzed the skeletal radiographs of 22 patients with and 11 without detectable SMARCAL1 mutations. We found that patients with SMARCAL1 mutations have a spondyloepiphyseal dysplasia (SED) essentially limited to the spine, pelvis, capital femoral epiphyses, and possibly the sella turcica, whereas the hands and other long bones are basically normal. Additionally, we found that several of the adolescent and young adult patients developed osteoporosis and coxarthrosis. Of the 11 patients without detectable SMARCAL1 mutations, seven had a SED indistinguishable from patients with SMARCAL1 mutations. We conclude therefore that SED is a feature of patients with SMARCAL1 mutations and that skeletal features do not distinguish who of those with SED have SMARCAL1 mutations.
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- 2010
105. Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes
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Schaefer, Elise, Durand, Myriam, Stoetzel, Corinne, Doray, Bérénice, Viville, Brigitte, Hellé, Sophie, Danse, Jean-Marc, Hamel, Christian, Bitoun, Pierre, Goldenberg, Alice, Finck, Sonia, Faivre, Laurence, Sigaudy, Sabine, Holder, Muriel, Vincent, Marie-Claire, Marion, Vincent, Bonneau, Dominique, Verloes, Alain, Nisand, Israël, Mandel, Jean-Louis, and Dollfus, Hélène
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- 2011
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106. Schimke immunoosseous dysplasia: Suggestions of genetic diversity
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Clewing, J. Marietta Fryssira, Helen Goodman, David and Smithson, Sarah F. Sloan, Emily A. Lou, Shu Huang, Yan and Chow, Kunho Luecke, Thomas Alpay, Harika Andre, Jean-Luc and Asakura, Yumi Biebuyck-Gouge, Nathalie Bogdanovic, Radovan and Bonneau, Dominique Cancrini, Caterina Cochat, Pierre and Cockfield, Sandra Collard, Laure Cordeiro, Isabel and Cormier-Daire, Valerie Cransberg, Karlien Cutka, Karel and Deschenes, Georges Ehrich, Jochen H. H. Frund, Stefan and Georgaki, Helen Guillen-Navarro, Encarna Hinkelmann, Barbara and Kanariou, Maria Kasap, Belde Kilic, Sara Sebnem Lama, Guiliana Lamfers, Petra Loirat, Chantal Majore, Silvia and Milford, David Morin, Denis Ozdemir, Nihal Pontz, Bertram F. and Proesmans, Willem Psoni, Stavroula Reichenbach, Herbert and Reif, Silke Rusu, Cristina Saraiva, Jorge M. Sakallioglu, Onur Schmidt, Beate Shoemaker, Lawrence Sigaudy, Sabine and Smith, Graham Sotsiou, Flora Stajic, Natasa Stein, Anja and Stray-Pedersen, Asbjorg Taha, Doris Taque, Sophie Tizard, Jane Tsimaratos, Michel Wong, Newton A. C. S. Boerkoel, Cornelius F.
- Abstract
Schimke immunoosseous dysplasia (SIOD), which is characterized by prominent spondyloepiplayseal dysplasia, T-cell deficiency, and focal segmental glomerulosclerosis, is a panethnic autosomal recessive multisystem disorder with variable expressivity. Biallelic mutations in switch/sucrose nonfermenting (swi/snf) related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD. However, among 72 patients from different families, we identified only 38 patients with biallelic mutations in the coding exons and splice junctions of the SMARCAL1 gene. This observation, the variable expressivity, and poor genotype-phenotype correlation led us to test several hypotheses including modifying haplotypes, oligogenic inheritance, or locus heterogeneity in SIOD. Haplotypes associated with the two more common mutations, R820H and E848X, did not correlate with phenotype. Also, contrary to monoallelic SMARCAL1 coding mutations indicating oligogenic inheritance, we found that all these patients did not express RNA and/or protein from the other allele and thus have biallelic SMARCAL1 mutations. We hypothesize therefore that the variable expressivity among patients with biallelic SMARCAL1 mutations arises from environmental, genetic, or epigenetic modifiers. Among patients without detectable SMARCAL1 coding mutations, our analyses of cell lines from four of these patients showed that they expressed normal levels of SMARCAL1 mRNA and protein. This is the first evidence for nonallelic heterogeneity in SIOD. From analysis of the postmortem histopathology from two patients and the clinical data from most patients, we propose the existence of endophenotypes of SIOD.
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- 2007
107. Truncated prelamin A expression in HGPS-like patients: a transcriptional study
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Barthélémy, Florian, primary, Navarro, Claire, additional, Fayek, Racha, additional, Da Silva, Nathalie, additional, Roll, Patrice, additional, Sigaudy, Sabine, additional, Oshima, Junko, additional, Bonne, Gisèle, additional, Papadopoulou-Legbelou, Kyriaki, additional, Evangeliou, Athanasios E, additional, Spilioti, Martha, additional, Lemerrer, Martine, additional, Wevers, Ron A, additional, Morava, Eva, additional, Robaglia-Schlupp, Andrée, additional, Lévy, Nicolas, additional, Bartoli, Marc, additional, and De Sandre-Giovannoli, Annachiara, additional
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- 2015
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108. Coffin–Siris syndrome with multiple congenital malformations and intrauterine death: Towards a better delineation of the severe end of the spectrum
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Coulibaly, Béma, Sigaudy, Sabine, Girard, Nadine, Popovici, Cornel, Missirian, Chantal, Heckenroth, Hélène, Tasei, Anne-Marie, and Fernandez, Carla
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- 2010
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109. Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome
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Bárcena, Clea, primary, Quesada, Víctor, additional, De Sandre-Giovannoli, Annachiara, additional, Puente, Diana A, additional, Fernández-Toral, Joaquín, additional, Sigaudy, Sabine, additional, Baban, Anwar, additional, Lévy, Nicolas, additional, Velasco, Gloria, additional, and López-Otín, Carlos, additional
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- 2014
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110. WITHDRAWN: Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective
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Cau, Pierre, primary, Navarro, Claire, additional, Harhouri, Karim, additional, Roll, Patrice, additional, Sigaudy, Sabine, additional, Kaspi, Elise, additional, Perrin, Sophie, additional, De Sandre-Giovannoli, Annachiara, additional, and Lévy, Nicolas, additional
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- 2014
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111. Phenotypic Spectrum of Simpson-Golabi-Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC 3 and Review of the Literature
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COTTEREAU, EDOUARD, primary, MORTEMOUSQUE, ISABELLE, additional, MOIZARD, MARIE‐PIERRE, additional, BÜRGLEN, LYDIE, additional, LACOMBE, DIDIER, additional, GILBERT‐DUSSARDIER, BRIGITTE, additional, SIGAUDY, SABINE, additional, BOUTE, ODILE, additional, DAVID, ALBERT, additional, FAIVRE, LAURENCE, additional, AMIEL, JEANNE, additional, ROBERTSON, ROBERT, additional, VIANA RAMOS, FABIANA, additional, BIETH, ERIC, additional, ODENT, SYLVIE, additional, DEMEER, BÉNÉDICTE, additional, MATHIEU, MICHÉLE, additional, GAILLARD, DOMINIQUE, additional, VAN MALDERGEM, LIONEL, additional, BAUJAT, GENEVIÉVE, additional, MAYSTADT, ISABELLE, additional, HÉRON, DELPHINE, additional, VERLOES, ALAIN, additional, PHILIP, NICOLE, additional, CORMIER‐DAIRE, VALÉRIE, additional, FROUTÉ, MARIE‐FRANÇOISE, additional, PINSON, LUCILE, additional, BLANCHET, PATRICIA, additional, SARDA, PIERRE, additional, WILLEMS, MARJOLAINE, additional, JACQUINET, ADELINE, additional, RATBI, ILHAM, additional, VAN DEN ENDE, JENNEKE, additional, LACKMY‐PORT LIS, MARYLIN, additional, GOLDENBERG, ALICE, additional, BONNEAU, DOMINIQUE, additional, ROSSIGNOL, SYLVIE, additional, and TOUTAIN, ANNICK, additional
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- 2013
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112. SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort.
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Tlemsani, Camille, Luscan, Armelle, Leulliot, Nicolas, Bieth, Eric, Afenjar, Alexandra, Baujat, Geneviève, Doco-Fenzy, Martine, Goldenberg, Alice, Lacombe, Didier, Lambert, Laetitia, Odent, Sylvie, Pasche, Jérôme, Sigaudy, Sabine, Buffet, Alexandre, Violle-Poirsier, Céline, Briand-Suleau, Audrey, Laurendeau, Ingrid, Chin, Magali, Saugier-Veber, Pascale, and Vidaud, Dominique
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Background Heterozygous NSD1 mutations were identified in 60%-90% of patients with Sotos syndrome. Recently, mutations of the SETD2 and DNMT3A genes were identified in patients exhibiting only some Sotos syndrome features. Both NSD1 and SETD2 genes encode epigenetic 'writer' proteins that catalyse methylation of histone 3 lysine 36 (H3K36me). The DNMT3A gene encodes an epigenetic 'reader' protein of the H3K36me chromatin mark. Methods We aimed at confirming the implication of DNMT3A and SETD2 mutations in an overgrowth phenotype, through a comprehensive targeted-next generation sequencing (NGS) screening in 210 well-phenotyped index cases with a Sotos-like phenotype and no NSD1 mutation, from a French cohort. Results Six unreported heterozygous likely pathogenic variants in DNMT3A were identified in seven patients: two nonsense variants and four de novo missense variants. One de novo unreported heterozygous frameshift variant was identified in SETD2 in one patient. All the four DNMT3A missense variants affected DNMT3A functional domains, suggesting a potential deleterious impact. DNMT3A-mutated index cases shared similar clinical features including overgrowth phenotype characterised by postnatal tall stature (=+2SD), macrocephaly (=+2SD), overweight or obesity at older age, intellectual deficiency and minor facial features. The phenotype associated with SETD2 mutations remains to be described more precisely. The p.Arg882Cys missense de novo constitutional DNMT3A variant found in two patients is the most frequent DNMT3A somatic mutation in acute leukaemia. Conclusions Our results illustrate the power of targeted NGS to identify rare disease-causing variants. These observations provided evidence for a unifying mechanism (disruption of apposition and reading of the epigenetic chromatin mark H3K36me) that causes an overgrowth syndrome phenotype. Further studies are needed in order to assess the role of SETD2 and DNMT3A in intellectual deficiency without overgrowth. [ABSTRACT FROM AUTHOR]
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- 2016
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113. Further delineation of the MECP2duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
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Miguet, Marguerite, Faivre, Laurence, Amiel, Jeanne, Nizon, Mathilde, Touraine, Renaud, Prieur, Fabienne, Pasquier, Laurent, Lefebvre, Mathilde, Thevenon, Julien, Dubourg, Christèle, Julia, Sophie, Sarret, Catherine, Remerand, Ganaelle, Francannet, Christine, Laffargue, Fanny, Boespflug-Tanguy, Odile, David, Albert, Isidor, Bertrand, Vigneron, Jacqueline, Leheup, Bruno, Lambert, Laetitia, Philippe, Christophe, Bèèéri-Dexheimer, Mylèène, Cuisset, Jean-Marie, Andrieux, Joris, Plessis, Ghislaine, Toutain, Annick, Guibaud, Laurent, Cormier-Daire, Valèèéérie, Rio, Marlene, Bonnefont, Jean-Paul, Echenne, Bernard, Journel, Hubert, Burglen, Lydie, Chantot-Bastaraud, Sandrine, Bienvenu, Thierry, Baumann, Clarisse, Perrin, Laurence, Drunat, Sèèéééverine, Jouk, Pierre-Simon, Dieterich, Klaus, Devillard, Francoise, Lacombe, Didier, Philip, Nicole, Sigaudy, Sabine, Moncla, Anne, Missirian, Chantal, Badens, Catherine, Perreton, Nathalie, Thauvin-Robinet, Christel, AChro-Puce, Rèèééééseau, Pedespan, Jean-Michel, Rooryck, Caroline, Goizet, Cyril, Vincent-Delorme, Catherine, Duban-Bedu, Bèèééééénèèéééééédicte, Bahi-Buisson, Nadia, Afenjar, Alexandra, Maincent, Kim, Hèèéééééééron, Delphine, Alessandri, Jean-Luc, Martin-Coignard, Dominique, Lesca, Gaetan, Rossi, Massimiliano, Raynaud, Martine, Callier, Patrick, Mosca-Boidron, Anne-Laure, Marle, Nathalie, Coutton, Charles, Satre, Vèèééééééééronique, Caignec, Cèèééééééééédric Le, Malan, Valèèéééééééééérie, Romana, Serge, Keren, Boris, Tabet, Anne-Claude, Kremer, Valèèééééééééééérie, Scheidecker, Sophie, Vigouroux, Adeline, Lackmy-Port-Lis, Marilyn, Sanlaville, Damien, Till, Marianne, Carneiro, Maryline, Gilbert-Dussardier, Brigitte, Willems, Marjolaine, Van Esch, Hilde, Portes, Vincent Des, and El Chehadeh, Salima
- Abstract
The Xq28 duplication involving the MECP2gene (MECP2duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series have been published. We aimed to better describe the phenotype of this condition, with a focus on morphological and neurological features. Through a national collaborative study, we report a large French series of 59 affected males with interstitial MECP2duplication. Most of the patients (93%) shared similar facial features, which evolved with age (midface hypoplasia, narrow and prominent nasal bridge, thick lower lip, large prominent ears), thick hair, livedo of the limbs, tapered fingers, small feet and vasomotor troubles. Early hypotonia and global DD were constant, with 21% of patients unable to walk. In patients able to stand, lower limbs weakness and spasticity led to a singular standing habitus: flexion of the knees, broad-based stance with pseudo-ataxic gait. Scoliosis was frequent (53%), such as divergent strabismus (76%) and hypermetropia (54%), stereotypic movements (89%), without obvious social withdrawal and decreased pain sensitivity (78%). Most of the patients did not develop expressive language, 35% saying few words. Epilepsy was frequent (59%), with a mean onset around 7.4 years of age, and often (62%) drug-resistant. Other medical issues were frequent: constipation (78%), and recurrent infections (89%), mainly lung. We delineate the clinical phenotype of MECP2duplication syndrome in a large series of 59 males. Pulmonary hypertension appeared as a cause of early death in these patients, advocating its screening early in life.
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- 2018
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114. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
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Bonnet, Crystel, primary, Grati, M'hamed, additional, Marlin, Sandrine, additional, Levilliers, Jacqueline, additional, Hardelin, Jean-Pierre, additional, Parodi, Marine, additional, Niasme-Grare, Magali, additional, Zelenika, Diana, additional, Délépine, Marc, additional, Feldmann, Delphine, additional, Jonard, Laurence, additional, El-Amraoui, Aziz, additional, Weil, Dominique, additional, Delobel, Bruno, additional, Vincent, Christophe, additional, Dollfus, Hélène, additional, Eliot, Marie-Madeleine, additional, David, Albert, additional, Calais, Catherine, additional, Vigneron, Jacqueline, additional, Montaut-Verient, Bettina, additional, Bonneau, Dominique, additional, Dubin, Jacques, additional, Thauvin, Christel, additional, Duvillard, Alain, additional, Francannet, Christine, additional, Mom, Thierry, additional, Lacombe, Didier, additional, Duriez, Françoise, additional, Drouin-Garraud, Valérie, additional, Thuillier-Obstoy, Marie-Françoise, additional, Sigaudy, Sabine, additional, Frances, Anne-Marie, additional, Collignon, Patrick, additional, Challe, Georges, additional, Couderc, Rémy, additional, Lathrop, Mark, additional, Sahel, José-Alain, additional, Weissenbach, Jean, additional, Petit, Christine, additional, and Denoyelle, Françoise, additional
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- 2011
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115. Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia
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Cognet, Marie, primary, Nougayrede, Agnés, additional, Malan, Valérie, additional, Callier, Patrick, additional, Cretolle, Celia, additional, Faivre, Laurence, additional, Genevieve, David, additional, Goldenberg, Alice, additional, Heron, Delphine, additional, Mercier, Sandra, additional, Philip, Nicole, additional, Sigaudy, Sabine, additional, Verloes, Alain, additional, Sarnacki, Sabine, additional, Munnich, Arnold, additional, Vekemans, Michel, additional, Lyonnet, Stanislas, additional, Etchevers, Heather, additional, Amiel, Jeanne, additional, and Pontual, Loïc de, additional
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- 2011
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116. Bardet-Biedl Syndrome
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Imhoff, Olivier, primary, Marion, Vincent, additional, Stoetzel, Corinne, additional, Durand, Myriam, additional, Holder, Muriel, additional, Sigaudy, Sabine, additional, Sarda, Pierre, additional, Hamel, Christian P., additional, Brandt, Christian, additional, Dollfus, Hélène, additional, and Moulin, Bruno, additional
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- 2011
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117. Schimke immunoosseous dysplasia: defining skeletal features
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Hunter, Kshamta B., primary, Lücke, Thomas, additional, Spranger, Jürgen, additional, Smithson, Sarah F., additional, Alpay, Harika, additional, André, Jean-Luc, additional, Asakura, Yumi, additional, Bogdanovic, Radovan, additional, Bonneau, Dominique, additional, Cairns, Robyn, additional, Cransberg, Karlien, additional, Fründ, Stefan, additional, Fryssira, Helen, additional, Goodman, David, additional, Helmke, Knut, additional, Hinkelmann, Barbara, additional, Lama, Guiliana, additional, Lamfers, Petra, additional, Loirat, Chantal, additional, Majore, Silvia, additional, Mayfield, Christy, additional, Pontz, Bertram F., additional, Rusu, Cristina, additional, Saraiva, Jorge M., additional, Schmidt, Beate, additional, Shoemaker, Lawrence, additional, Sigaudy, Sabine, additional, Stajic, Natasa, additional, Taha, Doris, additional, and Boerkoel, Cornelius F., additional
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- 2009
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118. Acrocallosal syndrome in fetus: focus on additional brain abnormalities
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Fernandez, Carla, primary, Soulier, Marie, additional, Coulibaly, Béma, additional, Liprandi, Agnès, additional, Benoit, Bernard, additional, Giuliano, Fabienne, additional, Sigaudy, Sabine, additional, Figarella-Branger, Dominique, additional, and Fallet-Bianco, Catherine, additional
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- 2007
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119. Prenatal findings in cardio-facio-cutaneous syndrome.
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Templin, Ludivine, Baumann, Clarisse, Busa, Tiffany, Heckenroth, Hélène, Pouvreau, Nathalie, Toutain, Annick, Cave, Hélène, Verloes, Alain, Sigaudy, Sabine, and Philip, Nicole
- Abstract
Our study was designed to analyze prenatal manifestations in patients affected with cardio-facio-cutaneous syndrome (CFCS), in order to define indications of DNA testing in utero. Prenatal features were extracted from a national database and additional data were collected from 16 families contacted through the French association of CFC-Costello syndrome. We collected results of ultrasound scan (USS) biometrics, presence of congenital birth defects, and polyhydramnios. From the database, increased nuchal translucency was present in 13% of pregnancies, polyhydramnios in 52%, macrosomia and/or macrocephaly in 16%. Of the 16 pregnancies, 81% were complicated by abnormal USS findings. Polyhydramnios was reported in 67%. Head circumference, biparietal diameter, and abdominal circumference were above the 90th centile in 72%, 83% and, 81% of fetuses, respectively. Contrasting with macrosomia, femur length was below the 10th centile in 38%. Urinary tract abnormalities were found in 47% of fetuses. Most CFCS fetuses showed a combination of macrocephaly, macrosomia, and polyhydramnios, contrasting with relatively short femora. This growth pattern is also seen in Costello syndrome. We suggest that screening for CFCS and Costello gene mutations could be proposed in pregnancies showing this unusual pattern of growth parameters. © 2015 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]
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- 2016
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120. Erratum: Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
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Stoetzel, Corinne, primary, Laurier, Virginie, additional, Davis, Erica E, additional, Muller, Jean, additional, Rix, Suzanne, additional, Badano, José L, additional, Leitch, Carmen C, additional, Salem, Nabiha, additional, Chouery, Eliane, additional, Corbani, Sandra, additional, Jalk, Nadine, additional, Vicaire, Serge, additional, Sarda, Pierre, additional, Hamel, Christian, additional, Lacombe, Didier, additional, Holder, Muriel, additional, Odent, Sylvie, additional, Holder, Susan, additional, Brooks, Alice S, additional, Elcioglu, Nursel H, additional, Silva, Eduardo D, additional, Rossillion, Béatrice, additional, Sigaudy, Sabine, additional, de Ravel, Thomy J L, additional, Lewis, Richard Alan, additional, Leheup, Bruno, additional, Verloes, Alain, additional, Amati-Bonneau, Patrizia, additional, Mégarbané, André, additional, Poch, Olivier, additional, Bonneau, Dominique, additional, Beales, Philip L, additional, Mandel, Jean-Louis, additional, Katsanis, Nicholas, additional, and Dollfus, Hélène, additional
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- 2006
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121. Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort
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Hichri, Haifa, primary, Stoetzel, Corinne, additional, Laurier, Virginie, additional, Caron, Solenne, additional, Sigaudy, Sabine, additional, Sarda, Pierre, additional, Hamel, Christian, additional, Martin-Coignard, Dominique, additional, Gilles, Morin, additional, Leheup, Bruno, additional, Holder, Mureille, additional, Kaplan, Josseline, additional, Bitoun, Pierre, additional, Lacombe, Didier, additional, Verloes, Alain, additional, Bonneau, Dominique, additional, Perrin-Schmitt, Fabienne, additional, Brandt, Christian, additional, Besancon, Anne-Françoise, additional, Mandel, Jean-Louis, additional, Cossée, Mireille, additional, and Dollfus, Hélène, additional
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- 2005
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122. Macrocephaly‐cutis marmorata telangiectatica congenita: Seven cases including two with unusual cerebral manifestations
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Giuliano, Fabienne, primary, David, Albert, additional, Edery, Patrick, additional, Sigaudy, Sabine, additional, Bonneau, Dominique, additional, Cormier‐Daire, Valérie, additional, and Philip, Nicole, additional
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- 2003
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123. MCA/MR syndrome with hypocholesterolemia related to familial dominant hypobetalipoproteinemia
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Nguyen, Karine, primary, Sigaudy, Sabine, additional, and Philip, Nicole, additional
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- 2003
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124. Prenatal diagnosis of Pierre–Robin sequence as part of Stickler syndrome
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Soulier, Marie, primary, Sigaudy, Sabine, additional, Chau, Cécile, additional, and Philip, Nicole, additional
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- 2002
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125. The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
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Barat-Houari, Mouna, Dumont, Bruno, Fabre, Aurélie, Them, Frédéric TM, Alembik, Yves, Alessandri, Jean-Luc, Amiel, Jeanne, Audebert, Séverine, Baumann-Morel, Clarisse, Blanchet, Patricia, Bieth, Eric, Brechard, Marie, Busa, Tiffany, Calvas, Patrick, Capri, Yline, Cartault, François, Chassaing, Nicolas, Ciorca, Vidrica, Coubes, Christine, David, Albert, Delezoide, Anne-Lise, Dupin-Deguine, Delphine, El Chehadeh, Salima, Faivre, Laurence, Giuliano, Fabienne, Goldenberg, Alice, Isidor, Bertrand, Jacquemont, Marie-Line, Julia, Sophie, Kaplan, Josseline, Lacombe, Didier, Lebrun, Marine, Marlin, Sandrine, Martin-Coignard, Dominique, Martinovic, Jelena, Masurel, Alice, Melki, Judith, Mozelle-Nivoix, Monique, Nguyen, Karine, Odent, Sylvie, Philip, Nicole, Pinson, Lucile, Plessis, Ghislaine, Quélin, Chloé, Shaeffer, Elise, Sigaudy, Sabine, Thauvin, Christel, Till, Marianne, Touraine, Renaud, Vigneron, Jacqueline, Baujat, Geneviève, Cormier-Daire, Valérie, Le Merrer, Martine, Geneviève, David, and Touitou, Isabelle
- Abstract
Heterozygous COL2A1 variants cause a wide spectrum of skeletal dysplasia termed type II collagenopathies. We assessed the impact of this gene in our French series. A decision tree was applied to select 136 probands (71 Stickler cases, 21 Spondyloepiphyseal dysplasia congenita cases, 11 Kniest dysplasia cases, and 34 other dysplasia cases) before molecular diagnosis by Sanger sequencing. We identified 66 different variants among the 71 positive patients. Among those patients, 18 belonged to multiplex families and 53 were sporadic. Most variants (38/44, 86%) were located in the triple helical domain of the collagen chain and glycine substitutions were mainly observed in severe phenotypes, whereas arginine to cysteine changes were more often encountered in moderate phenotypes. This series of skeletal dysplasia is one of the largest reported so far, adding 44 novel variants (15%) to published data. We have confirmed that about half of our Stickler patients (46%) carried a COL2A1 variant, and that the molecular spectrum was different across the phenotypes. To further address the question of genotype–phenotype correlation, we plan to screen our patients for other candidate genes using a targeted next-generation sequencing approach.
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- 2016
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126. Renal and retinal involvement in the Sensenbrenner syndrome
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Tsimaratos, Michel, primary, Sarles, Jacques, additional, Sigaudy, Sabine, additional, and Philip, Nicole, additional
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- 1998
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127. Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain
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Chabrol, Brigitte, primary, Sigaudy, Sabine, additional, Paquis, Véronique, additional, Montfort, Marie-France, additional, Giudicelli, Hélène, additional, Pellissier, Jean-François, additional, Millet, Véronique, additional, Mancini, Josette, additional, and Philip, Nicole, additional
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- 1997
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128. Correspondence on “De novo variants in MED12cause X-linked syndromic neurodevelopmental disorders in 18 females” by Polla et al.
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Riccardi, Florence, Astier, Alexandre, Grisval, Margot, Maillard, Arnaud, Michaud, Vincent, Badens, Catherine, Gordon, Christopher T., Trimouille, Aurélien, Faivre, Laurence, Amiel, Jeanne, Sigaudy, Sabine, and Gorokhova, Svetlana
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- 2021
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129. Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3and Review of the Literature
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COTTEREAU, EDOUARD, MORTEMOUSQUE, ISABELLE, MOIZARD, MARIE‐PIERRE, BÜRGLEN, LYDIE, LACOMBE, DIDIER, GILBERT‐DUSSARDIER, BRIGITTE, SIGAUDY, SABINE, BOUTE, ODILE, DAVID, ALBERT, FAIVRE, LAURENCE, AMIEL, JEANNE, ROBERTSON, ROBERT, VIANA RAMOS, FABIANA, BIETH, ERIC, ODENT, SYLVIE, DEMEER, BÉNÉDICTE, MATHIEU, MICHÉLE, GAILLARD, DOMINIQUE, VAN MALDERGEM, LIONEL, BAUJAT, GENEVIÉVE, MAYSTADT, ISABELLE, HÉRON, DELPHINE, VERLOES, ALAIN, PHILIP, NICOLE, CORMIER‐DAIRE, VALÉRIE, FROUTÉ, MARIE‐FRANÇOISE, PINSON, LUCILE, BLANCHET, PATRICIA, SARDA, PIERRE, WILLEMS, MARJOLAINE, JACQUINET, ADELINE, RATBI, ILHAM, VAN DEN ENDE, JENNEKE, LACKMY‐PORT LIS, MARYLIN, GOLDENBERG, ALICE, BONNEAU, DOMINIQUE, ROSSIGNOL, SYLVIE, and TOUTAIN, ANNICK
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- 2013
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130. Macrocephaly-cutis marmorata telangiectatica congenita: Seven cases including two with unusual cerebral manifestations
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Giuliano, Fabienne, David, Albert, Edery, Patrick, Sigaudy, Sabine, Bonneau, Dominique, Cormier-Daire, Valérie, and Philip, Nicole
- Abstract
Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is a recently described multiple congenital anomaly/mental retardation (MCA/MR) syndrome of unknown cause. This condition is easily recognizable at birth in children with macrocephaly, cutis marmorata, face and/or body segmental overgrowth, toe syndactyly, midface capillary malformation, and hemimegalencephaly. Cutis marmorata may be absent in some cases. Most patients are developmentally delayed. We describe seven new patients, including two with unusual cerebral manifestations and severe outcome. One of two had a complex congenital heart defect (CHD) and died in the neonatal period. Brain magnetic resonance imaging (MRI) showed generalized cortical dysplasia. The other patient had a stroke episode at age 14 years. Cerebral arteriography showed an abnormal vascular pattern. These findings are consistent with the fact that M-CMTC is a generalized vasculopathy. © 2003 Wiley-Liss, Inc.
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- 2004
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131. Autosomal recessive primary microcephaly due to ASPM mutations: An update
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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, David, Gérard, Marion, 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, Sefiani, Abdelaziz, Sigaudy, Sabine, Sznajer, Yves, Tunca, Yusuf, Guilmin Crepon, Sophie, Alberti, Corinne, Elmaleh-Bergès, Monique, Benzacken, Brigitte, Wollnick, Bernd, Woods, C Geoffrey, Rauch, Anita, Abramowicz, Marc, El Ghouzzi, Vincent, Gressens, Pierre, Verloes, Alain, and Passemard, Sandrine
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Male ,MCPH ,Geography ,primary microcephaly ,ASPM ,Infant ,brain development ,brain imaging ,Nerve Tissue Proteins ,Magnetic Resonance Imaging ,3. Good health ,Cohort Studies ,centrosome ,Cognition ,intellectual disability ,Child, Preschool ,Mutation ,Microcephaly ,Humans ,Family ,Female ,Genetic Association Studies - Abstract
Autosomal recessive microcephaly or microcephaly primary hereditary (MCPH) is a genetically heterogeneous neurodevelopmental disorder characterized by a reduction in brain volume, indirectly measured by an occipitofrontal circumference (OFC) 2 standard deviations or more below the age- and sex-matched mean (-2SD) at birth and -3SD after 6 months, and leading to intellectual disability of variable severity. The abnormal spindle-like microcephaly gene (ASPM), the human ortholog of the Drosophila melanogaster "abnormal spindle" gene (asp), encodes ASPM, a protein localized at the centrosome of apical neuroprogenitor cells and involved in spindle pole positioning during neurogenesis. Loss-of-function mutations in ASPM cause MCPH5, which affects the majority of all MCPH patients worldwide. Here, we report 47 unpublished patients from 39 families carrying 28 new ASPM mutations, and conduct an exhaustive review of the molecular, clinical, neuroradiological, and neuropsychological features of the 282 families previously reported (with 161 distinct ASPM mutations). Furthermore, we show that ASPM-related microcephaly is not systematically associated with intellectual deficiency and discuss the association between the structural brain defects (strong reduction in cortical volume and surface area) that modify the cortical map of these patients and their cognitive abilities.
132. Schimke immunoosseous dysplasia: defining skeletal features
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Lamfers, Petra, Helmke, Knut, Bonneau, Dominique, Schmidt, Beate, Spranger, Jürgen, Cairns, Robyn, Pontz, Bertram F., André, Jean-Luc, Rusu, Cristina, Sigaudy, Sabine, Lama, Guiliana, Saraiva, Jorge M., Mayfield, Christy, Shoemaker, Lawrence, Bogdanovic, Radovan, Boerkoel, Cornelius F., Hinkelmann, Barbara, Taha, Doris, Fryssira, Helen, Lücke, Thomas, Smithson, Sarah F., Stajic, Natasa, Alpay, Harika, Loirat, Chantal, Goodman, David, Hunter, Kshamta B., Cransberg, Karlien, Majore, Silvia, Fründ, Stefan, and Asakura, Yumi
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3. Good health - Abstract
Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis. Biallelic mutations in swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD, but approximately half of patients referred for molecular studies do not have detectable mutations in SMARCAL1. We hypothesized that skeletal features distinguish between those with or without SMARCAL1 mutations. Therefore, we analyzed the skeletal radiographs of 22 patients with and 11 without detectable SMARCAL1 mutations. We found that patients with SMARCAL1 mutations have a spondyloepiphyseal dysplasia (SED) essentially limited to the spine, pelvis, capital femoral epiphyses, and possibly the sella turcica, whereas the hands and other long bones are basically normal. Additionally, we found that several of the adolescent and young adult patients developed osteoporosis and coxarthrosis. Of the 11 patients without detectable SMARCAL1 mutations, seven had a SED indistinguishable from patients with SMARCAL1 mutations. We conclude therefore that SED is a feature of patients with SMARCAL1 mutations and that skeletal features do not distinguish who of those with SED have SMARCAL1 mutations.
133. Real-world experience with Vosoritide for achondroplasia: interim findings from an early access programme in France
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Cormier-Daire, Valerie, Cohen, Shelda, Thomas Edouard, Isidor, Bertrand, Mukherjee, Swati, Pimenta, Jeanne, Rossi, Massimiliano, Schaefer, Elise, Sigaudy, Sabine, and Baujat, Genevieve
134. Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
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Tiffany Busa, Anaïs Brassier, Agathe Roubertie, Bénédicte Héron, M. Tardieu, Stéphane Marret, Roseline Froissart, Martine Doco-Fenzy, Céline Poirsier, Stéphanie Torre, Serge Rivera, Ivana Dabaj, Sabrina Vergnaud, Julien Baruteau, Marta Spodenkiewicz, Jean-Baptiste Arnoux, Bénédicte Sudrié-Arnaud, Brigitte Chabrol, Abdellah Tebani, Solaf M. Elsayed, Catherine Vanhulle, Sarah Snanoudj, Anne-Claire Brehin, Pascale Saugier-Veber, Aline Cano, Hélène Dranguet, Thierry Levade, Alice Goldenberg, Samia Pichard, Alice Kuster, Catherine Caillaud, Majed Al Khouri, Yves Alembik, Stéphanie Roggerone, Isabelle Desguerre, Nursel Elcioglu, François Labarthe, Sophie Coutant, Philippe Jouvencel, Bernard Drenou, Sandrine Roche, Laur Domitille, Alain Fouilhoux, Sabine Sigaudy, Christine Coubes, Soumeya Bekri, Leila Lazaro, Tebani, Abdellah, Sudrie-Arnaud, Benedicte, Dabaj, Ivana, Torre, Stephanie, Domitille, Laur, Snanoudj, Sarah, Heron, Benedicte, Levade, Thierry, Caillaud, Catherine, Vergnaud, Sabrina, Saugier-Veber, Pascale, Coutant, Sophie, Dranguet, Helene, Froissart, Roseline, Al Khouri, Majed, Alembik, Yves, Baruteau, Julien, Arnoux, Jean-Baptiste, Brassier, Anais, Brehin, Anne-Claire, Busa, Tiffany, Cano, Aline, Chabrol, Brigitte, Coubes, Christine, Desguerre, Isabelle, Doco-Fenzy, Martine, Drenou, Bernard, Elcioglu, Nursel H., Elsayed, Solaf, Fouilhoux, Alain, Poirsier, Celine, Goldenberg, Alice, Jouvencel, Philippe, Kuster, Alice, Labarthe, Francois, Lazaro, Leila, Pichard, Samia, Rivera, Serge, Roche, Sandrine, Roggerone, Stephanie, Roubertie, Agathe, Sigaudy, Sabine, Spodenkiewicz, Marta, Tardieu, Marine, Vanhulle, Catherine, Marret, Stephane, and Bekri, Soumeya
- Subjects
EXPRESSION ,0301 basic medicine ,Proband ,FIBROBLASTS ,brain diseases ,ELASTIN-BINDING PROTEIN ,GM1 GANGLIOSIDOSIS ,Mucopolysaccharidosis ,Genomics ,G(M1) Ganglioside ,Bioinformatics ,03 medical and health sciences ,Exon ,0302 clinical medicine ,metabolic ,Pregnancy ,Hydrops fetalis ,genomics ,Genetics ,medicine ,Humans ,Gene ,Genetics (clinical) ,Gangliosidosis, GM1 ,business.industry ,Mucopolysaccharidosis IV ,brain damage ,ADULTS ,GM1-GANGLIOSIDOSIS ,beta-Galactosidase ,medicine.disease ,Phenotype ,POLYMORPHISM ,chronic ,MORQUIO B DISEASE ,030104 developmental biology ,IMPAIRED ELASTOGENESIS ,GLB1 ,Mutation ,central nervous system diseases ,Female ,business ,GENE-MUTATIONS ,030217 neurology & neurosurgery - Abstract
IntroductionThis study aims to define the phenotypic and molecular spectrum of the two clinical forms of β-galactosidase (β-GAL) deficiency, GM1-gangliosidosis and mucopolysaccharidosis IVB (Morquio disease type B, MPSIVB).MethodsClinical and genetic data of 52 probands, 47 patients with GM1-gangliosidosis and 5 patients with MPSIVB were analysed.ResultsThe clinical presentations in patients with GM1-gangliosidosis are consistent with a phenotypic continuum ranging from a severe antenatal form with hydrops fetalis to an adult form with an extrapyramidal syndrome. Molecular studies evidenced 47 variants located throughout the sequence of the GLB1 gene, in all exons except 7, 11 and 12. Eighteen novel variants (15 substitutions and 3 deletions) were identified. Several variants were linked specifically to early-onset GM1-gangliosidosis, late-onset GM1-gangliosidosis or MPSIVB phenotypes. This integrative molecular and clinical stratification suggests a variant-driven patient assignment to a given clinical and severity group.ConclusionThis study reports one of the largest series of b-GAL deficiency with an integrative patient stratification combining molecular and clinical features. This work contributes to expand the community knowledge regarding the molecular and clinical landscapes of b-GAL deficiency for a better patient management.
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- 2021
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135. WITHDRAWN: Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective
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Cau, Pierre, Navarro, Claire, Harhouri, Karim, Roll, Patrice, Sigaudy, Sabine, Kaspi, Elise, Perrin, Sophie, De Sandre-Giovannoli, Annachiara, and Lévy, Nicolas
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136. Real-World Safety and Effectiveness of Vosoritide in Children with Achondroplasia: French Early Access Program.
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Cormier-Daire V, Edouard T, Isidor B, Mukherjee S, Pimenta JM, Rossi M, Schaefer E, Sigaudy S, and Baujat G
- Abstract
Introduction: Vosoritide is the first approved treatment for achondroplasia, a rare genetic disorder that results in disproportionate short stature. In clinical trials, vosoritide has shown a positive safety profile and increased height in children with achondroplasia. This paper shares the organizational structure, initiation, follow-up protocol, and findings of a vosoritide early access program (EAP) conducted in France., Methods: Participants aged ≥5 years with achondroplasia and open epiphyses were eligible for enrollment in the EAP, conducted by six centers within the French national rare disease reference center for constitutional bone diseases network, from 24 June 2021 to 13 December 2022. Treatment consisted of once daily subcutaneous vosoritide 15 μg/kg. Safety and effectiveness (height, height Z-score, annualized growth velocity [AGV]) data over a 12-month follow-up period were collected., Results: Among 62 enrolled participants, 57 started treatment with vosoritide within the EAP period with 38 completing at least 6 months and 22 at least 12 months of treatment. After 12 months of treatment, participants achieved a mean AGV of 6.0 cm/year, absolute gain in height of 6.2 cm, and increase in height Z-score referenced to the average stature population of 0.38. All adverse events were mild (mainly injection site reactions) and there were no discontinuations related to vosoritide treatment., Conclusions: In this first use of vosoritide in a real-world setting, vosoritide had a positive benefit-risk ratio similar to that observed in vosoritide clinical trials. The French EAP provides a model that may be adapted and adopted for use in other countries., (The Author(s). Published by S. Karger AG, Basel.)
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- 2025
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137. Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.
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Thauvin-Robinet C, Garde A, Delanne J, Racine C, Rousseau T, Simon E, François M, Moutton S, Sylvie O, Quelin C, Morel G, Goldenberg A, Guerrot AM, Vera G, Gruchy N, Colson C, Boute O, Abel C, Putoux A, Amiel J, Guichet A, Isidor B, Deiller C, Wells C, Rooryck C, Legendre M, Francannet C, Dard R, Sigaudy S, Bruel AL, Safraou H, Denommé-Pichon AS, Nambot S, Asensio MH, Binquet C, Duffourd Y, Vitobello A, Philippe C, Faivre L, Tran-Mau-Them F, and Bourgon N
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- Humans, Female, Pregnancy, Phenotype, Adult, Exome Sequencing methods, Genetic Diseases, Inborn diagnosis, Genetic Diseases, Inborn genetics, Prenatal Diagnosis methods
- Abstract
Objective: Prenatal exome sequencing (pES) is now commonly used in clinical practice. It can be used to identifiy an additional diagnosis in around 30% of fetuses with structural defects and normal chromosomal microarray analysis (CMA). However, interpretation remains challenging due to the limited prenatal data for genetic disorders., Method: We conducted an ancillary study including fetuses with pathogenic/likely pathogenic variants identified by trio-pES from the "AnDDI-Prenatome" study. The prenatal phenotype of each patient was categorized as typical, uncommon, or unreported based on the comparison of the prenatal findings with documented findings in the literature and public phenotype-genotype databases (ClinVar, HGMD, OMIM, and Decipher)., Results: Prenatal phenotypes were typical for 38/56 fetuses (67.9%). For the others, genotype-phenotype associations were challenging due to uncommon prenatal features (absence of recurrent hallmark, rare, or unreported). We report the first prenatal features associated with LINS1 and PGM1 variants. In addition, a double diagnosis was identified in three fetuses., Conclusion: Standardizing the description of prenatal features, implementing longitudinal prenatal follow-up, and large-scale collection of prenatal features are essential steps to improving pES data interpretation., (© 2024 The Author(s). Prenatal Diagnosis published by John Wiley & Sons Ltd.)
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- 2024
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138. Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
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Cuinat S, Quélin C, Effray C, Dubourg C, Le Bouar G, Cabaret-Dufour AS, Loget P, Proisy M, Sauvestre F, Sarreau M, Martin-Berenguer S, Beneteau C, Naudion S, Michaud V, Arveiler B, Trimouille A, Macé P, Sigaudy S, Glazunova O, Torrents J, Raymond L, Saint-Frison MH, Attié-Bitach T, Lefebvre M, Capri Y, Bourgon N, Thauvin-Robinet C, Tran Mau-Them F, Bruel AL, Vitobello A, Denommé-Pichon AS, Faivre L, Brehin AC, Goldenberg A, Patrier-Sallebert S, Perani A, Dauriat B, Bourthoumieu S, Yardin C, Marquet V, Barnique M, Fiorenza-Gasq M, Marey I, Tournadre D, Doumit R, Nugues F, Barakat TS, Bustos F, Jaillard S, Launay E, Pasquier L, and Odent S
- Subjects
- Humans, Male, Female, Fetus pathology, Mutation, Phenotype, Prenatal Diagnosis, Exome Sequencing, Genetic Association Studies methods, Abnormalities, Multiple genetics, Abnormalities, Multiple pathology, Abnormalities, Multiple diagnosis, Pedigree, Pregnancy, Genetic Diseases, X-Linked genetics, Genetic Diseases, X-Linked pathology, Genetic Diseases, X-Linked diagnosis
- Abstract
Introduction: Tonne-Kalscheuer syndrome (TOKAS) is a recessive X-linked multiple congenital anomaly disorder caused by RLIM variations. Of the 41 patients reported, only 7 antenatal cases were described., Method: After the antenatal diagnosis of TOKAS by exome analysis in a family followed for over 35 years because of multiple congenital anomalies in five male fetuses, a call for collaboration was made, resulting in a cohort of 11 previously unpublished cases., Results: We present a TOKAS antenatal cohort, describing 11 new cases in 6 French families. We report a high frequency of diaphragmatic hernia (9 of 11), differences in sex development (10 of 11) and various visceral malformations. We report some recurrent dysmorphic features, but also pontocerebellar hypoplasia, pre-auricular skin tags and olfactory bulb abnormalities previously unreported in the literature. Although no clear genotype-phenotype correlation has yet emerged, we show that a recurrent p.(Arg611Cys) variant accounts for 66% of fetal TOKAS cases. We also report two new likely pathogenic variants in RLIM , outside of the two previously known mutational hotspots., Conclusion: Overall, we present the first fetal cohort of TOKAS, describe the clinical features that made it a recognisable syndrome at fetopathological examination, and extend the phenotypical spectrum and the known genotype of this rare disorder., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY. Published by BMJ.)
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- 2024
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139. Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability.
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Khosrowabadi E, Mignon-Ravix C, Riccardi F, Cacciagli P, Desnous B, Sigaudy S, Milh M, Villard L, Kjellén L, and Molinari F
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- Humans, Acetylglucosamine, Cognition, Inheritance Patterns, Mutant Proteins, Sulfotransferases genetics, Intellectual Disability genetics
- Abstract
Intellectual Disability (ID) is the major cause of handicap, affecting nearly 3% of the general population, and is highly genetically heterogenous with more than a thousand genes involved. Exome sequencing performed in two independent families identified the same missense variant, p.(Gly611Ser), in the NDST1 (N-deacetylase/N-sulfotransferase member 1) gene. This variant had been previously found in ID patients of two other families but has never been functionally characterized. The NDST1 gene encodes a bifunctional enzyme that catalyzes both N-deacetylation and N-sulfation of N-acetyl-glucosamine residues during heparan sulfate (HS) biosynthesis. This step is essential because it influences the downstream enzymatic modifications and thereby determines the overall structure and sulfation degree of the HS polysaccharide chain. To discriminate between a rare polymorphism and a pathogenic variant, we compared the enzymatic properties of wild-type and mutant NDST1 proteins. We found that the p.(Gly611Ser) variant results in a complete loss of N-sulfotransferase activity while the N-deacetylase activity is retained. NDST1 shows the highest and the most homogeneous expression in the human cerebral structures compared to the other members of the NDST gene family. These results indicate that a loss of NDST1 N-sulfation activity is associated with impaired cognitive functions., (© The Author(s) 2023. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)
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- 2024
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140. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
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Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, Bessieres B, Loeuillet L, Attie-Bitach T, Martinovic J, Blesson S, Petit F, Beneteau C, Whalen S, Marguet F, Bouligand J, Héron D, Viot G, Amiel J, Amram D, Bellesme C, Bucourt M, Faivre L, Jouk PS, Khung S, Sigaudy S, Delezoide AL, Goldenberg A, Jacquemont ML, Lambert L, Layet V, Lyonnet S, Munnich A, Van Maldergem L, Piard J, Guimiot F, Landrieu P, Letard P, Pelluard F, Perrin L, Saint-Frison MH, Topaloglu H, Trestard L, Vincent-Delorme C, Amthor H, Barnerias C, Benachi A, Bieth E, Boucher E, Cormier-Daire V, Delahaye-Duriez A, Desguerre I, Eymard B, Francannet C, Grotto S, Lacombe D, Laffargue F, Legendre M, Martin-Coignard D, Mégarbané A, Mercier S, Nizon M, Rigonnot L, Prieur F, Quélin C, Ranjatoelina-Randrianaivo H, Resta N, Toutain A, Verhelst H, Vincent M, Colin E, Fallet-Bianco C, Granier M, Grigorescu R, Saada J, Gonzales M, Guiochon-Mantel A, Bessereau JL, Tawk M, Gut I, Gitiaux C, and Melki J
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- Genomics, Humans, Pedigree, Phenotype, Proteins genetics, Transcription Factors genetics, Exome Sequencing, Arthrogryposis diagnosis, Arthrogryposis genetics, Arthrogryposis pathology
- Abstract
Background: Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families., Methods: Several genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants., Results: We achieved disease gene identification in 52.7% of AMC index patients including nine recently identified genes ( CNTNAP1 , MAGEL2 , ADGRG6 , ADCY6 , GLDN , LGI4 , LMOD3 , UNC50 and SCN1A ). Moreover, we identified pathogenic variants in ASXL3 and STAC3 expanding the phenotypes associated with these genes. The most frequent cause of AMC was a primary involvement of skeletal muscle (40%) followed by brain (22%). The most frequent mode of inheritance is autosomal recessive (66.3% of patients). In sporadic patients born to non-consanguineous parents (n=60), de novo dominant autosomal or X linked variants were observed in 30 of them (50%)., Conclusion: New genes recently identified in AMC represent 21% of causing genes in our cohort. A high proportion of de novo variants were observed indicating that this mechanism plays a prominent part in this developmental disease. Our data showed the added value of WES when compared with TES due to the larger clinical spectrum of some disease genes than initially described and the identification of novel genes., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
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- 2022
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141. Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.
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Vibert R, Mignot C, Keren B, Chantot-Bastaraud S, Portnoï MF, Nouguès MC, Moutard ML, Faudet A, Whalen S, Haye D, Garel C, Chatron N, Rossi M, Vincent-Delorme C, Boute O, Delobel B, Andrieux J, Devillard F, Coutton C, Puechberty J, Pebrel-Richard C, Colson C, Gerard M, Missirian C, Sigaudy S, Busa T, Doco-Fenzy M, Malan V, Rio M, Doray B, Sanlaville D, Siffroi JP, Héron D, and Heide S
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- Chromosome Deletion, Chromosome Inversion, Chromosomes, Human, Pair 8, Corpus Callosum diagnostic imaging, Genetic Association Studies, Humans, Phenotype, Trisomy, Intellectual Disability diagnostic imaging, Intellectual Disability genetics, Leukoencephalopathies genetics
- Abstract
Inverted duplication deletion 8p [invdupdel(8p)] is a complex and rare chromosomal rearrangement that combines a distal deletion and an inverted interstitial duplication of the short arm of chromosome 8. Carrier patients usually have developmental delay and intellectual disability (ID), associated with various cerebral and extra-cerebral malformations. Invdupdel(8p) is the most common recurrent chromosomal rearrangement in ID patients with anomalies of the corpus callosum (AnCC). Only a minority of invdupdel(8p) cases reported in the literature to date had both brain cerebral imaging and chromosomal microarray (CMA) with precise breakpoints of the rearrangements, making genotype-phenotype correlation studies for AnCC difficult. In this study, we report the clinical, radiological, and molecular data from 36 new invdupdel(8p) cases including three fetuses and five individuals from the same family, with breakpoints characterized by CMA. Among those, 97% (n = 32/33) of patients presented with mild to severe developmental delay/ID and 34% had seizures with mean age of onset of 3.9 years (2 months-9 years). Moreover, out of the 24 patients with brain MRI and 3 fetuses with neuropathology analysis, 63% (n = 17/27) had AnCC. We review additional data from 99 previously published patients with invdupdel(8p) and compare data of 17 patients from the literature with both CMA analysis and brain imaging to refine genotype-phenotype correlations for AnCC. This led us to refine a region of 5.1 Mb common to duplications of patients with AnCC and discuss potential candidate genes within this region., (© 2021 John Wiley & Sons A/S . Published by John Wiley & Sons Ltd.)
- Published
- 2022
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142. Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
- Author
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Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Lefebvre M, Thevenon J, Dubourg C, Julia S, Sarret C, Remerand G, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Vigneron J, Leheup B, Lambert L, Philippe C, Béri-Dexheimer M, Cuisset JM, Andrieux J, Plessis G, Toutain A, Guibaud L, Cormier-Daire V, Rio M, Bonnefont JP, Echenne B, Journel H, Burglen L, Chantot-Bastaraud S, Bienvenu T, Baumann C, Perrin L, Drunat S, Jouk PS, Dieterich K, Devillard F, Lacombe D, Philip N, Sigaudy S, Moncla A, Missirian C, Badens C, Perreton N, Thauvin-Robinet C, AChro-Puce R, Pedespan JM, Rooryck C, Goizet C, Vincent-Delorme C, Duban-Bedu B, Bahi-Buisson N, Afenjar A, Maincent K, Héron D, Alessandri JL, Martin-Coignard D, Lesca G, Rossi M, Raynaud M, Callier P, Mosca-Boidron AL, Marle N, Coutton C, Satre V, Caignec CL, Malan V, Romana S, Keren B, Tabet AC, Kremer V, Scheidecker S, Vigouroux A, Lackmy-Port-Lis M, Sanlaville D, Till M, Carneiro M, Gilbert-Dussardier B, Willems M, Van Esch H, Portes VD, and El Chehadeh S
- Subjects
- Adolescent, Adult, Child, Child, Preschool, Chromosomes, Human, X genetics, Developmental Disabilities complications, Developmental Disabilities genetics, Developmental Disabilities physiopathology, Epilepsy complications, Epilepsy genetics, Epilepsy physiopathology, Exotropia complications, Exotropia physiopathology, France epidemiology, Humans, Hyperopia complications, Hyperopia genetics, Hyperopia physiopathology, Hypertension, Pulmonary complications, Hypertension, Pulmonary physiopathology, Infant, Intellectual Disability complications, Intellectual Disability physiopathology, Male, X-Linked Intellectual Disability complications, X-Linked Intellectual Disability physiopathology, Pedigree, Phenotype, Somatosensory Disorders genetics, Somatosensory Disorders physiopathology, Stereotypic Movement Disorder complications, Stereotypic Movement Disorder genetics, Stereotypic Movement Disorder physiopathology, Young Adult, Exotropia genetics, Hypertension, Pulmonary genetics, Intellectual Disability genetics, X-Linked Intellectual Disability genetics, Methyl-CpG-Binding Protein 2 genetics
- Abstract
The Xq28 duplication involving the MECP2 gene ( MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series have been published. We aimed to better describe the phenotype of this condition, with a focus on morphological and neurological features. Through a national collaborative study, we report a large French series of 59 affected males with interstitial MECP2 duplication. Most of the patients (93%) shared similar facial features, which evolved with age (midface hypoplasia, narrow and prominent nasal bridge, thick lower lip, large prominent ears), thick hair, livedo of the limbs, tapered fingers, small feet and vasomotor troubles. Early hypotonia and global DD were constant, with 21% of patients unable to walk. In patients able to stand, lower limbs weakness and spasticity led to a singular standing habitus: flexion of the knees, broad-based stance with pseudo-ataxic gait. Scoliosis was frequent (53%), such as divergent strabismus (76%) and hypermetropia (54%), stereotypic movements (89%), without obvious social withdrawal and decreased pain sensitivity (78%). Most of the patients did not develop expressive language, 35% saying few words. Epilepsy was frequent (59%), with a mean onset around 7.4 years of age, and often (62%) drug-resistant. Other medical issues were frequent: constipation (78%), and recurrent infections (89%), mainly lung. We delineate the clinical phenotype of MECP2 duplication syndrome in a large series of 59 males. Pulmonary hypertension appeared as a cause of early death in these patients, advocating its screening early in life., Competing Interests: Competing interests: None declared., (© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)
- Published
- 2018
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143. Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome.
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Busa T, Legendre M, Bauge M, Quarello E, Bretelle F, Bilan F, Sigaudy S, Gilbert-Dussardier B, and Philip N
- Subjects
- Cerebral Ventricles abnormalities, Cerebral Ventricles diagnostic imaging, Cleft Lip diagnostic imaging, Craniofacial Abnormalities diagnostic imaging, DNA Helicases genetics, DNA-Binding Proteins genetics, Ear, External abnormalities, Ear, External diagnostic imaging, Female, Fetal Growth Retardation diagnostic imaging, Heart Septal Defects diagnostic imaging, Humans, Infant, Infant, Newborn, Kidney, Male, Phenotype, Polyhydramnios diagnostic imaging, Pregnancy, Retrospective Studies, Thymus Gland abnormalities, Thymus Gland diagnostic imaging, Ultrasonography, Prenatal, Ureter abnormalities, Ureter diagnostic imaging, Urogenital Abnormalities diagnostic imaging, CHARGE Syndrome diagnostic imaging
- Abstract
Background: CHARGE syndrome is a multiple congenital anomaly syndrome caused by mutations in CHD7. Diagnostic criteria have been proposed to improve diagnosis in fetuses at clinicopathological survey, but no criteria exist for fetal diagnosis during pregnancy., Method: We collected prenatal findings of 12 children with CHARGE syndrome diagnosed in the first 3 months and a CHD7 mutation. We retrieved data on prenatal ultrasound (US) follow-up, fetal supplementary investigations, and results of postnatal evaluation., Result: Seven pregnancies were complicated by the identification of isolated or multiple congenital anomalies. CHARGE syndrome was suspected in three fetuses but could not be confirmed despite additional examinations. Retrospectively, several postnatal findings could have been seen if they had been specifically searched. Intrauterine growth restriction, previously proposed as an exclusion criterion, complicated two pregnancies and is thus compatible with the diagnosis., Conclusion: Diagnosis of CHARGE syndrome remains difficult during pregnancy. If the diagnosis of CHARGE syndrome is raised in utero, we suggest a careful US examination to identify typical external ears, choanal atresia, or microphthalmia. Fetal brain magnetic resonance imaging can be helpful, but a normal result does not exclude the diagnosis. When CHARGE syndrome is highly suspected, CHD7 molecular analysis must be proposed to confirm the diagnosis. © 2016 John Wiley & Sons, Ltd., (© 2016 John Wiley & Sons, Ltd.)
- Published
- 2016
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144. Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.
- Author
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Imhoff O, Marion V, Stoetzel C, Durand M, Holder M, Sigaudy S, Sarda P, Hamel CP, Brandt C, Dollfus H, and Moulin B
- Subjects
- Adult, Bardet-Biedl Syndrome physiopathology, Cohort Studies, Creatinine urine, Female, Genotype, Glucose metabolism, Humans, Kidney diagnostic imaging, Kidney physiopathology, Male, Microtubule-Associated Proteins, Phenotype, Proteins genetics, Ultrasonography, Bardet-Biedl Syndrome complications, Cardiovascular Diseases etiology, Kidney Diseases etiology
- Abstract
Background and Objectives: Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy with a wide spectrum of clinical features including obesity, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism, and renal abnormalities. The molecular genetic profile of BBS is currently being investigated after the recent identification of 14 BBS genes involved in primary cilia-linked disease. This study aims to characterize the renal and cardiovascular presentations and to analyze possible relationships between genotypes and clinical phenotypes., Design, Setting, Participants & Measurements: This clinical study was performed in a national cohort of 33 BBS patients, 22 men and 11 women, all aged >16 years (mean age 26.3 years)., Results: Renal abnormalities, including impairment of renal function and signs of chronic interstitial nephropathy of dysplastic nature, were documented in 82% of the patients. Cardiovascular evaluations revealed that this group of young patients had significant cardiovascular risk factors. Hypertension was found in >30% of the patients and hyperlipidemia in >60%, and almost 50% had other metabolic abnormalities. Overt diabetes was present in only 6%. With regard to genotype-phenotype correlation, patients with a mutation in the BBS6, BBS10, or BBS12 gene (10 of 33 patients) had more severe renal disease., Conclusions: Our study results confirm the frequent occurrence of renal involvement in patients with BBS, underscore the high risk of cardiovascular disease in these patients, and provide new information on a possible genotype-phenotype correlation.
- Published
- 2011
- Full Text
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