Mutations in SYNGAPL in autosomai nonsyndromic mental retardation

Fadi F. Hamdan, Julie Gauthier, Dan Spiegelman, Anne Noreau, Yan Yang, Stéphanie Pellerin, R. N.Sylvia Dobrzeniecka, Mélanie Côté, Elizabeth Perreault-Linck, Lionel Carmant, Guy D'Anjou, Éric Fombonne, Anjene M. Addington, Judith L. Rapoport, Lynn E. Delisi, Marie Odile Krebs, Faycal Mouaffak, Ridha Joober, Laurent Mottron, Pierre DrapeauClaude Marineau, Ronald G. Lafrenière, Jean Claude Lacaille, Guy A. Rouleau, Jacques L. Michaud

Research output: Contribution to journalArticlepeer-review

225 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)599-605
Number of pages7
JournalNew England Journal of Medicine
Issue number6
StatePublished - Feb 5 2009
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)


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