Pinto, Dalila Delaby, Elsa Merico, Daniele Barbosa, Mafalda Merikangas, Alison Klei, Lambertus Thiruvahindrapuram, Bhooma Xu, Xiao Ziman, Robert Wang, Zhuozhi
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Published in
American journal of human genetics
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping kno...
Tatton-Brown, Katrina Douglas, Jenny Coleman, Kim Baujat, Geneviève Cole, Trevor R.P. Das, Soma Horn, Denise Hughes, Helen E. Temple, I. Karen Faravelli, Francesca
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Published in
The American Journal of Human Genetics
We identified 266 individuals with intragenic NSD1 mutations or 5q35 microdeletions encompassing NSD1 (referred to as "NSD1-positive individuals"), through analyses of 530 subjects with diverse phenotypes. Truncating NSD1 mutations occurred throughout the gene, but pathogenic missense mutations occurred only in functional domains (P
Birk, Efrat Har-Zahav, Adi Manzini, Chiara M. Pasmanik-Chor, Metsada Kornreich, Liora Walsh, Christopher A. Noben-Trauth, Konrad Albin, Adi Simon, Amos J. Colleaux, Laurence
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Published in
The American Journal of Human Genetics
Intellectual disability (ID) affects 1%–3% of the general population. We recently reported on a family with autosomal-recessive mental retardation with anterior maxillary protrusion and strabismus (MRAMS) syndrome. One of the reported patients with ID did not have dysmorphic features but did have temporal lobe epilepsy and psychosis. We report on t...
Fares-Taie, Lucas Gerber, Sylvie Tawara, Akihiko Ramirez-Miranda, Arturo Douet, Jean-Yves Verdin, Hannah Guilloux, Antoine Zenteno, Juan C Kondo, Hiroyuki Moisset, Hugo
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Published in
American journal of human genetics
Congenital microcoria (MCOR) is a rare autosomal-dominant disorder characterized by inability of the iris to dilate owing to absence of dilator pupillae muscle. So far, a dozen MCOR-affected families have been reported worldwide. By using whole-genome oligonucleotide array CGH, we have identified deletions at 13q32.1 segregating with MCOR in six fa...
Oustric, Vincent Manceau, Hana Ducamp, Sarah Soaid, Rima Karim, Zoubida Schmitt, Caroline Mirmiran, Arienne Peoc’h, Katell Grandchamp, Bernard Beaumont, Carole
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Published in
The American Journal of Human Genetics
In 90% of people with erythropoietic protoporphyria (EPP), the disease results from the inheritance of a common hypomorphic FECH allele, encoding ferrochelatase, in trans to a private deleterious FECH mutation. The activity of the resulting FECH enzyme falls below the critical threshold of 35%, leading to the accumulation of free protoporphyrin IX ...
Mollet, Julie Delahodde, Agnès Serre, Valérie Chretien, Dominique Schlemmer, Dimitri Lombes, Anne Boddaert, Nathalie Desguerre, Isabelle de Lonlay, Pascale Ogier de Baulny, Hélène
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Published in
The American Journal of Human Genetics
Coenzyme Q 10 (CoQ 10) plays a pivotal role in oxidative phosphorylation (OXPHOS) in that it distributes electrons between the various dehydrogenases and the cytochrome segments of the respiratory chain. Primary coenzyme Q 10 deficiency represents a clinically heterogeneous condition suggestive of genetic heterogeneity, and several disease genes ha...
Campeau, Philippe M. Kim, Jaeseung C. Lu, James T. Schwartzentruber, Jeremy A. Abdul-Rahman, Omar A. Schlaubitz, Silke Murdock, David M. Jiang, Ming-Ming Lammer, Edward J. Enns, Gregory M.
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Published in
The American Journal of Human Genetics
Genitopatellar syndrome (GPS) is a skeletal dysplasia with cerebral and genital anomalies for which the molecular basis has not yet been determined. By exome sequencing, we found de novo heterozygous truncating mutations in KAT6B (lysine acetyltransferase 6B, formerly known as MYST4 and MORF) in three subjects; then by Sanger sequencing of KAT6B, w...
Boissel, Sarah Reish, Orit Proulx, Karine Kawagoe-Takaki, Hiroko Sedgwick, Barbara Yeo, Giles S.H. Meyre, David Golzio, Christelle Molinari, Florence Kadhom, Noman
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Published in
The American Journal of Human Genetics
FTO is a nuclear protein belonging to the AlkB-related non-haem iron- and 2-oxoglutarate-dependent dioxygenase family. Although polymorphisms within the first intron of the FTO gene have been associated with obesity, the physiological role of FTO remains unknown. Here we show that a R316Q mutation, inactivating FTO enzymatic activity, is responsibl...
Vedrenne, Vanessa Gowher, Ali De Lonlay, Pascale Nitschke, Patrick Serre, Valérie Boddaert, Nathalie Altuzarra, Cecilia Mager-Heckel, Anne-Marie Chretien, Florence Entelis, Nina
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Published in
The American Journal of Human Genetics
Multiple-respiratory-chain deficiency represents an important cause of mitochondrial disorders. Hitherto, however, mutations in genes involved in mtDNA maintenance and translation machinery only account for a fraction of cases. Exome sequencing in two siblings, born to consanguineous parents, with severe encephalomyopathy, choreoathetotic movements...
Baala, Lekbir Audollent, Sophie Martinovic, Jéléna Ozilou, Catherine Babron, Marie-Claude Sivanandamoorthy, Sivanthiny Saunier, Sophie Salomon, Rémi Gonzales, Marie Rattenberry, Eleanor
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Published in
The American Journal of Human Genetics
Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations, polydactyly, multicystic kidney dysplasia, and ductal changes of the liver. Three loci have been mapped (MKS1–MKS3), and two genes have been identified (MKS1/FLJ20345 and MKS3/TMEM67), whereas the gene at the MKS2 locus remain...
