Mutations inSYNGAP1in Autosomal Nonsyndromic Mental Retardation
| Autor: | Fadi F, Hamdan, Julie, Gauthier, Dan, Spiegelman, Anne, Noreau, Yan, Yang, Stéphanie, Pellerin, Sylvia, Dobrzeniecka, Mélanie, Côté, Elizabeth, Perreau-Linck, Elizabeth, Perreault-Linck, Lionel, Carmant, Guy, D'Anjou, Eric, Fombonne, Anjene M, Addington, Judith L, Rapoport, Lynn E, Delisi, Marie-Odile, Krebs, Faycal, Mouaffak, Ridha, Joober, Laurent, Mottron, Pierre, Drapeau, Claude, Marineau, Ronald G, Lafrenière, Jean Claude, Lacaille, Guy A, Rouleau, Jacques L, Michaud |
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| Rok vydání: | 2009 |
| Předmět: |
Male
Heterozygote SYNGAP1 medicine.disease_cause Article Intellectual Disability medicine Humans Child Frameshift Mutation Gene Genetics Mutation Autosome business.industry GTPase-Activating Proteins Sequence Analysis DNA General Medicine medicine.disease Control subjects Pedigree Developmental disorder Codon Nonsense ras GTPase-Activating Proteins Schizophrenia Autism Female business |
| Zdroj: | New England Journal of Medicine. 360:599-605 |
| ISSN: | 1533-4406 0028-4793 |
| DOI: | 10.1056/nejmoa0805392 |
| Popis: | Although autosomal forms of nonsyndromic mental retardation account for the majority of cases of mental retardation, the genes that are involved remain largely unknown. We sequenced the autosomal gene SYNGAP1, which encodes a ras GTPase-activating protein that is critical for cognition and synapse function, in 94 patients with nonsyndromic mental retardation. We identified de novo truncating mutations (K138X, R579X, and L813RfsX22) in three of these patients. In contrast, we observed no de novo or truncating mutations in SYNGAP1 in samples from 142 subjects with autism spectrum disorders, 143 subjects with schizophrenia, and 190 control subjects. These results indicate that SYNGAP1 disruption is a cause of autosomal dominant nonsyndromic mental retardation. |
| Databáze: | OpenAIRE |
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