Gueneau, Lucie Huguet, Guillaume Goldenberg, Alice Henry, Céline Gigot, Nadège Pallesi-Pocachard, Emilie Falace, Antonio Duplomb, Laurence Thevenon, Julien Duffourd, Yannis
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Published in
European Journal of Human Genetics
Semaphorins are a large family of secreted and membrane-associated proteins necessary for wiring of the brain. Semaphorin 5A (SEMA5A) acts as a bifunctional guidance cue, exerting both attractive and inhibitory effects on developing axons. Previous studies have suggested that SEMA5A could be a susceptibility gene for autism spectrum disorders (ASDs...
Graul-Neumann, Luitgard M Deichsel, Alexandra Wille, Ulrike Kakar, Naseebullah Koll, Randi Bassir, Christian Ahmad, Jamil Valérie Cormier-Daire Mundlos, Stefan Kubisch, Christian
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Published in
European Journal of Human Genetics
Acromesomelic chondrodysplasias (ACDs) are characterized by disproportionate shortening of the appendicular skeleton, predominantly affecting the middle (forearms and forelegs) and distal segments (hands and feet). Here, we present two consanguineous families with missense (c.157T>C, p.(C53R)) or nonsense (c.657G>A, p.(W219*)) mutations in BMPR1B. ...
Geneviève, David Héron, Delphine El Ghouzzi, Vincent Prost-Squarcioni, Catherine Le Merrer, Martine Jacquette, Aurélia Sanlaville, Damien Pinton, Florence Villeneuve, Nathalie Kalifa, Gabriel
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Published in
European Journal of Human Genetics
Spondyloepimetaphyseal dysplasias (SEMD) represent a heterogeneous group of conditions composed of at least 15 well-defined entities. The classification is based on clinical, radiological and molecular findings. Among them, several conditions also include a mental retardation (MR) syndrome, namely Wolcott-Rallison syndrome, Dyggve-Melchior-Clausen ...
Cognet, Marie Nougayrede, Agnés Malan, Valérie Callier, Patrick Cretolle, Celia Faivre, Laurence Genevieve, David Goldenberg, Alice Heron, Delphine Mercier, Sandra
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Published in
European Journal of Human Genetics
Feingold syndrome (FS) is a syndromic microcephaly entity for which MYCN is the major disease-causing gene. We studied the expression pattern of MYCN at different stages of human embryonic development and collected a series of 17 FS and 12 isolated oesophageal atresia (IOA) cases. An MYCN gene deletion/mutation was identified in 47% of FS cases exc...
Malan, Valérie Chevallier, Suzanne Soler, Gwendoline Coubes, Christine Lacombe, Didier Pasquier, Laurent Soulier, Jean Morichon-Delvallez, Nicole Turleau, Catherine Munnich, Arnold
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Published in
European Journal of Human Genetics
Overgrowth syndromes are a heterogeneous group of conditions including endocrine hormone disorders, several genetic syndromes and other disorders with unknown etiopathogenesis. Among genetic causes, chromosomal deletions and duplications such as dup(4)(p16.3), dup(15)(q26qter), del(9)(q22.32q22.33), del(22)(q13) and del(5)(q35) have been identified...
Redon, Richard Baujat, Geneviève Sanlaville, Damien Le Merrer, Martine Vekemans, Michel Munnich, Arnold Carter, Nigel P Valérie Cormier-Daire Laurence Colleaux
Published in
European Journal of Human Genetics
In the course of a systematic whole genome screening of patients with unexplained overgrowth syndrome by microarray-based comparative genomic hybridisation (array-CGH), we have identified two children with nearly identical 6.5 Mb-long de novo interstitial deletions at 9q22.32-q22.33. The clinical phenotype includes macrocephaly, overgrowth and trig...
Pasini, Barbara McWhinney, Sarah R Bei, Thalia Matyakhina, Ludmila Stergiopoulos, Sotirios Muchow, Michael Boikos, Sosipatros A Ferrando, Barbara Pacak, Karel Assie, Guillaume
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Published in
European Journal of Human Genetics
Gastrointestinal stromal tumors (GISTs) may be caused by germline mutations of the KIT and platelet-derived growth factor receptor-alpha (PDGFRA) genes and treated by Imatinib mesylate (STI571) or other protein tyrosine kinase inhibitors. However, not all GISTs harbor these genetic defects and several do not respond to STI571 suggesting that other ...
Lyle, Robert Béna, Frédérique Gagos, Sarantis Gehrig, Corinne Lopez, Gipsy Schinzel, Albert Lespinasse, James Bottani, Armand Dahoun, Sophie Taine, Laurence
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Published in
European Journal of Human Genetics
Down syndrome (DS) is one of the most frequent congenital birth defects, and the most common genetic cause of mental retardation. In most cases, DS results from the presence of an extra copy of chromosome 21. DS has a complex phenotype, and a major goal of DS research is to identify genotype-phenotype correlations. Cases of partial trisomy 21 and o...
Faivre, Laurence Gosset, Philippe Valérie Cormier-Daire Odent, Sylvie Amiel, Jeanne Giurgea, Irina Nassogne, Marie-Cécile Pasquier, Laurent Munnich, Arnold Romana, Serge
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Published in
European Journal of Human Genetics
Overgrowth is rarely associated with chromosomal imbalances. Here we report on four children from two unrelated families presenting with overgrowth and a terminal duplication of the long arm of chromosome 15 diagnosed using cytogenetic and FISH studies. In both cases, chromosome analysis of the parents showed a balanced translocation involving 15q2...
Michot, Caroline Le Goff, Carine Mahaut, Clémentine Afenjar, Alexandra Brooks, Alice S Campeau, Philippe M Destree, Anne Di Rocco, Maja Donnai, Dian Hennekam, Raoul
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Published in
European Journal of Human Genetics
Myhre syndrome is characterized by short stature, brachydactyly, facial features, pseudomuscular hypertrophy, joint limitation and hearing loss. We identified SMAD4 mutations as the cause of Myhre syndrome. SMAD4 mutations have also been identified in laryngotracheal stenosis, arthropathy, prognathism and short stature syndrome (LAPS). This study a...
