Dataset Information

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.

ABSTRACT: 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.

SUBMITTER: Hamdan FF

PROVIDER: S-EPMC2925262 | biostudies-literature | 2009 Feb

REPOSITORIES: biostudies-literature

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Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.

Hamdan Fadi F FF Gauthier Julie J Spiegelman Dan D Noreau Anne A Yang Yan Y Pellerin Stéphanie S Dobrzeniecka Sylvia S Côté Mélanie M Perreau-Linck Elizabeth E Carmant Lionel L D'Anjou Guy G Fombonne Eric E Addington Anjene M AM Rapoport Judith L JL Delisi Lynn E LE Krebs Marie-Odile MO Mouaffak Faycal F Joober Ridha R Mottron Laurent L Drapeau Pierre P Marineau Claude C Lafrenière Ronald G RG Lacaille Jean Claude JC Rouleau Guy A GA Michaud Jacques L JL

The New England journal of medicine 20090201 6

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 ...[more]

PMID: 19196676

Dataset Information

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.

Publications

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.

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