Fragaki, Konstantina Ait-El-Mkadem, Samira Chaussenot, Annabelle Gire, Catherine Mengual, Raymond Bonesso, Laurent Bénéteau, Marie Ricci, Jean-Ehrland Desquiret-Dumas, Valérie Procaccio, Vincent
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Published in
European Journal of Human Genetics
We report two children, born from consanguineous parents, who presented with early-onset refractory epilepsy associated with psychomotor delay, failure to thrive, blindness and deafness. Polarographic and spectrophotometric analyses in fibroblasts and liver revealed a respiratory chain (RC) dysfunction. Surprisingly, we identified a homozygous nons...
Sanyoura, May Woudstra, Cédric Halaby, George Baz, Patrick Senée, Valérie Guillausseau, Pierre-Jean Zalloua, Pierre Cécile Julier
Published in
European Journal of Human Genetics
Insulin-dependent juvenile-onset diabetes may occur in the context of rare syndromic presentations suggesting monogenic inheritance rather than common multifactorial autoimmune type 1 diabetes. Here, we report the case of a Lebanese patient diagnosed with juvenile-onset insulin-dependent diabetes presenting ketoacidosis, early-onset retinopathy wit...
Thomas, Sophie Cantagrel, Vincent Mariani, Laura Serre, Valérie Lee, Ji-Eun Elkhartoufi, Nadia De Lonlay, Pascale Desguerre, Isabelle Munnich, Arnold Nathalie Boddaert
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Published in
European Journal of Human Genetics
Joubert syndrome (JS) is a genetically heterogeneous autosomal recessive ciliopathy with 22 genes implicated to date, including a small, ciliary GTPase, ARL13B. ARL13B is required for cilia formation in vertebrates. JS patients display multiple symptoms characterized by ataxia due to the cerebellar vermis hypoplasia, and that can also include ocula...
Huber, Céline Delezoide, Anee-Lise Guimiot, Fabien Baumann, Clarisse Malan, Valérie Le Merrer, Martine Da Silva, Daniela Bezerra Bonneau, Dominique Chatelain, Pierre Chu, Carol
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Published in
European Journal of Human Genetics
The 3M syndrome is a rare autosomal recessive disorder recently ascribed to mutations in the CUL7 gene and characterized by severe pre- and postnatal growth retardation. Studying a series of 33 novel cases of 3M syndrome, we have identified deleterious CUL7 mutations in 23/33 patients, including 19 novel mutations and one paternal isodisomy of chro...
Poirier, Karine Viot, Géraldine Lombardi, Laura Jauny, Clémence Pierre Billuart Thierry Bienvenu
Published in
European Journal of Human Genetics
p.(Arg320His) mutation in the KCNC1 gene in human 11p15.1 has recently been identified in patients with progressive myoclonus epilepsies, a group of rare inherited disorders manifesting with action myoclonus, myoclonic epilepsy, and ataxia. This KCNC1 variant causes a dominant-negative effect. Here we describe three patients from the same family wi...
Nguyen, Lam Son Schneider, Taiane Rio, Marlène Moutton, Sébastien Siquier-Pernet, Karine Verny, Florine Boddaert, Nathalie Desguerre, Isabelle Munich, Arnold Rosa, José Luis
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Published in
European Journal of Human Genetics
Megalencephaly is a congenital condition characterized by severe overdeveloped brain size. This phenotype is often caused by mutations affecting the RTK/PI3K/mTOR (receptor tyrosine kinase-phosphatidylinositol-3-kinase-AKT) signaling and its downstream pathway of mammalian target of rapamycin (mTOR). Here, using a whole-exome sequencing in a Morocc...
Hélène Cave Caye, Aurélie Ghedira, Nehla Capri, Yline Pouvreau, Nathalie Fillot, Natacha Trimouille, Aurélien Vignal, Cédric Fenneteau, Odile Alembik, Yves
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Published in
European Journal of Human Genetics
Noonan syndrome is a heterogeneous autosomal dominant disorder caused by mutations in at least eight genes involved in the RAS/MAPK signaling pathway. Recently, RIT1 (Ras-like without CAAX 1) has been shown to be involved in the pathogenesis of some patients. We report a series of 44 patients from 30 pedigrees (including nine multiplex families) wi...
Haut, Sandrine de Villemeur, Thierry Billette Brivet, Michèle Guiochon-Mantel, Anne Boutron, Audrey Pierre Rustin Legrand, Alain Slama, Abdelhamid
Published in
European Journal of Human Genetics
We report on a patient with severe growth retardation and IgF1 deficiency, in which a mitochondrial abnormality was suspected. An isolated mitochondrial respiratory chain complex III deficiency was found in blood lymphocytes and skin fibroblasts. Sequence analysis of the cytochrome b, which is the only mitochondrial DNA-encoded subunit of complex I...
Basel-Vanagaite, Lina Pelet, Anna Steiner, Zvi Munnich, Arnold Rozenbach, Yoram Shohat, Mordechai Stanislas Lyonnet
Published in
European Journal of Human Genetics
Hirschsprung disease (HSCR) is characterised by intestinal obstruction resulting from an absence of ganglion cells in the intestinal tract. The mutations in the major gene, RET, associated with isolated HSCR, are dominant loss-of-function mutations with incomplete penetrance and variable expressivity. We have ascertained a large inbred Israeli-Arab...
Clayton-Smith, Jill Walters, Sarah Hobson, Emma Burkitt-Wright, Emma Smith, Rupert Toutain, Annick Amiel, Jeanne Stanislas Lyonnet Mansour, Sahar Fitzpatrick, David
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Published in
European Journal of Human Genetics
Xq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability and recurrent pneumonia. We identified an Xq28 duplication in three families where several male patients had presented with intestinal pseudo-obstruction or bladder ...
