Ait-El-Mkadem, Samira Dayem-Quere, Manal Gusic, Mirjana Chaussenot, Annabelle Bannwarth, Sylvie François, Bérengère Genin, Emmanuelle C Fragaki, Konstantina Volker-Touw, Catharina L M Vasnier, Christelle
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Published in
American journal of human genetics
MDH2 encodes mitochondrial malate dehydrogenase (MDH), which is essential for the conversion of malate to oxaloacetate as part of the proper functioning of the Krebs cycle. We report bi-allelic pathogenic mutations in MDH2 in three unrelated subjects presenting with early-onset generalized hypotonia, psychomotor delay, refractory epilepsy, and elev...
Macia, Maxence S. Halbritter, Jan Delous, Marion Bredrup, Cecilie Gutter, Arthur Filhol, Emilie Mellgren, Anne E.C. Leh, Sabine Bizet, Albane Braun, Daniela A.
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Published in
The American Journal of Human Genetics
Nephronophthisis (NPH), an autosomal-recessive tubulointerstitial nephritis, is the most common cause of hereditary end-stage renal disease in the first three decades of life. Since most NPH gene products (NPHP) function at the primary cilium, NPH is classified as a ciliopathy. We identified mutations in a candidate gene in eight individuals from f...
Guimier, Anne Gordon, Christopher T Godard, François Ravenscroft, Gianina Oufadem, Myriam Vasnier, Christelle Rambaud, Caroline Nitschke, Patrick Bole-Feysot, Christine Masson, Cécile
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Published in
American journal of human genetics
Sudden unexpected death in infancy occurs in apparently healthy infants and remains largely unexplained despite thorough investigation. The vast majority of cases are sporadic. Here we report seven individuals from three families affected by sudden and unexpected cardiac arrest between 4 and 20 months of age. Whole-exome sequencing revealed compoun...
Le Goff, Carine Rogers, Curtis Le Goff, Wilfried Pinto, Graziella Bonnet, Damien Chrabieh, Maya Alibeu, Olivier Nistchke, Patrick Munnich, Arnold Picard, Capucine
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Published in
American journal of human genetics
Cardiospondylocarpofacial (CSCF) syndrome is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion and extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations. Whole-exome sequencing identified heterozygous MAP3K7 mut...
Bhoj, Elizabeth J. Li, Dong Harr, Margaret Edvardson, Shimon Elpeleg, Orly Chisholm, Elizabeth Juusola, Jane Douglas, Ganka Guillen Sacoto, Maria J. Siquier-Pernet, Karine
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Published in
The American Journal of Human Genetics
Through an international multi-center collaboration, 13 individuals from nine unrelated families and affected by likely pathogenic biallelic variants in TBC1-domain-containing kinase (TBCK) were identified through whole-exome sequencing. All affected individuals were found to share a core phenotype of intellectual disability and hypotonia, and many...
Sánchez-Caballero, Laura Ruzzenente, Benedetta Bianchi, Lucas Assouline, Zahra Barcia, Giulia Metodiev, Metodi D. Rio, Marlène Funalot, Benoît van den Brand, Mariël A.M. Guerrero-Castillo, Sergio
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Published in
The American Journal of Human Genetics
Mitochondrial complex I deficiency results in a plethora of often severe clinical phenotypes manifesting in early childhood. Here, we report on three complex-I-deficient adult subjects with relatively mild clinical symptoms, including isolated, progressive exercise-induced myalgia and exercise intolerance but with normal later development. Exome se...
Metodiev, Metodi D Thompson, Kyle Alston, Charlotte L Morris, Andrew A M He, Langping Assouline, Zarah Rio, Marlène Bahi-Buisson, Nadia Pyle, Angela Griffin, Helen
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Published in
American journal of human genetics
Mitochondrial disorders are clinically and genetically diverse, with mutations in mitochondrial or nuclear genes able to cause defects in mitochondrial gene expression. Recently, mutations in several genes encoding factors involved in mt-tRNA processing have been identified to cause mitochondrial disease. Using whole-exome sequencing, we identified...
Deschamps, Matthieu Laval, Guillaume Fagny, Maud Itan, Yuval Laurent Abel Jean-Laurent Casanova Patin, Etienne Quintana-Murci, Lluis
Published in
The American Journal of Human Genetics
Human genes governing innate immunity provide a valuable tool for the study of the selective pressure imposed by microorganisms on host genomes. A comprehensive, genome-wide study of how selective constraints and adaptations have driven the evolution of innate immunity genes is missing. Using full-genome sequence variation from the 1000 Genomes Pro...
Gerber, Sylvie Alzayady, Kamil J Burglen, Lydie Brémond-Gignac, Dominique Marchesin, Valentina Roche, Olivier Rio, Marlène Funalot, Benoit Calmon, Raphaël Durr, Alexandra
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Published in
American journal of human genetics
Gillespie syndrome (GS) is a rare variant form of aniridia characterized by non-progressive cerebellar ataxia, intellectual disability, and iris hypoplasia. Unlike the more common dominant and sporadic forms of aniridia, there has been no significant association with PAX6 mutations in individuals with GS and the mode of inheritance of the disease h...
Stessman, Holly A F Willemsen, Marjolein H Fenckova, Michaela Penn, Osnat Hoischen, Alexander Xiong, Bo Wang, Tianyun Hoekzema, Kendra Vives, Laura Vogel, Ida
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Published in
American journal of human genetics
Intellectual disability (ID) and autism spectrum disorders (ASD) are genetically heterogeneous, and a significant number of genes have been associated with both conditions. A few mutations in POGZ have been reported in recent exome studies; however, these studies do not provide detailed clinical information. We collected the clinical and molecular ...
