Bellais, Samuel Le Goff, Carine Dagoneau, Nathalie Munnich, Arnold Valérie Cormier-Daire
Published in
European Journal of Human Genetics
The Stüve-Wiedemann Syndrome (SWS) is a frequently lethal chondrodysplasia caused by null mutations in the leukemia inhibitory factor receptor gene (LIFR) responsible for an impaired activation of the JAK-STAT pathway after LIF stimulation. Most LIFR mutations are nonsense mutations, thus prompting us to investigate the impact of aminoglycosides on...
Vergult, Sarah Krgovic, Danijela Loeys, Bart Lyonnet, Stanislas Liedén, Agne Anderlid, Britt-Marie Sharkey, Freddie Joss, Shelagh Mortier, Geert Menten, Björn
...
Published in
European Journal of Human Genetics
The introduction of array CGH in clinical diagnostics has led to the discovery of many new microdeletion/microduplication syndromes. Most of them are rare and often present with a variable range of clinical anomalies. In this study we report three patients with a de novo overlapping microdeletion of chromosome bands 12q15q21.1. The deletions are ∼2...
Geneviève, David Sanlaville, Damien Faivre, Laurence Kottler, Marie-Laure Jambou, Marguerite Gosset, Philippe Boustani-Samara, Dinane Pinto, Graziella Ozilou, Catherine Abeguilé, Geneviève
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Published in
European Journal of Human Genetics
Deletions of the long arm of chromosome 20 are rare. Here, we report on two girls with a very small interstitial deletion of the long arm of chromosome 20 presenting with severe pre- and post-natal growth retardation, intractable feeding difficulties, abnormal subcutaneous adipose tissue, similar facial dysmorphism, psychomotor retardation and hypo...
Jannot, Anne-Sophie Amiel, Jeanne Pelet, Anna Lantieri, Francesca Fernandez, Raquel M Verheij, Joke B G M Garcia-Barcelo, Merce Arnold, Stacey Ceccherini, Isabella Borrego, Salud
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Published in
European Journal of Human Genetics
Hirschsprung disease (HSCR, aganglionic megacolon) is a complex and heterogeneous disease with an incidence of 1 in 5000 live births. Despite the multifactorial determination of HSCR in the vast majority of cases, there is a monogenic subgroup for which private rare RET coding sequence mutations with high penetrance are found (45% of HSCR familial ...
Rio, Marlène Malan, Valérie Boissel, Sarah Toutain, Annick Royer, Ghislaine Gobin, Stéphanie Morichon-Delvallez, Nicole Turleau, Catherine Bonnefont, Jean-Paul Munnich, Arnold
...
Published in
European Journal of Human Genetics
X-linked mental retardation is a common disorder that accounts for 5-10% of cases of mental retardation in males. Fragile X syndrome is the most common form resulting from a loss of expression of the FMR1 gene. On the other hand, partial duplication of the long arm of the X chromosome is uncommon. It leads to functional disomy of the corresponding ...
Barat-Houari, Mouna Dumont, Bruno Fabre, Aurélie Them, Frédéric TM Alembik, Yves Alessandri, Jean-Luc Amiel, Jeanne Audebert, Séverine Baumann-Morel, Clarisse Blanchet, Patricia
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Published in
European Journal of Human Genetics
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 mo...
Moutel, Grégoire Duchange, Nathalie Raffi, François Sharara, Lama I Théodorou, Ioannis Noël, Violaine de Montgolfier, Sandrine Callies, Ingrid Bricaire, François Hervé, Christian
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Published in
Stem cells international
The aim of pharmacogenetic studies is to adapt therapeutic strategies to individual genetic profiles, thus maximising their efficacy and minimising the likelihood of adverse side effects. Since the advent of personalised medicine, the issue of communicating research results to participants has become increasingly important. We addressed this questi...
Franck Bourdeaut Ferrand, Sandrine Brugières, Laurence Hilbert, Marjorie Ribeiro, Agnès Lacroix, Ludovic Bénard, Jean Combaret, Valérie Michon, Jean Valteau-Couanet, Dominique
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Published in
European Journal of Human Genetics
Neuroblastic tumours may occur in a predisposition context. Two main genes are involved: PHOX2B, observed in familial cases and frequently associated with other neurocristopathies (Ondine's and Hirschsprung's disease); and ALK, mostly in familial tumours. We have assessed the frequency of mutations of these two genes in patients with a presumable h...
Navarro, Claire Laure Esteves-Vieira, Vera Courrier, Sébastien Boyer, Amandine Duong Nguyen, Thuy Huong, Le Thi Thanh Meinke, Peter Schröder, Winnie Cormier-Daire, Valérie Sznajer, Yves
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Published in
European Journal of Human Genetics
Restrictive dermopathy (RD) is a rare and extremely severe congenital genodermatosis, characterized by a tight rigid skin with erosions at flexure sites, multiple joint contractures, low bone density and pulmonary insufficiency generally leading to death in the perinatal period. RD is caused in most patients by compound heterozygous or homozygous Z...
Vergult, Sarah Krgovic, Danijela Loeys, Bart Stanislas Lyonnet Liedén, Agne Anderlid, Britt-Marie Sharkey, Freddie Joss, Shelagh Mortier, Geert Menten, Björn
...
Published in
European Journal of Human Genetics
As pointed out correctly by Dr Kirk there is a difference between hypernasal speech and hyponasal speech. The three patients described in our paper,1 which was published in the October issue of this year, all present with hypernasal speech. For patient 1, the hypernasality was confirmed by the clinician. The hypernasality seen in patient 2 was asse...
