Format

Send to:

Choose Destination
See comment in PubMed Commons below
N Engl J Med. 2009 Feb 5;360(6):599-605. doi: 10.1056/NEJMoa0805392.

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.

Author information

  • 1Centre Hospitalier Universitaire Sainte-Justine Research Center, Centre of Excellence in Neuromics, Université de Montréal, QC, Canada.

Erratum in

  • N Engl J Med. 2009 Oct 29;361(18):1814. Perreault-Linck, Elizabeth [corrected to Perreau-Linck, Elizabeth].

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.

2009 Massachusetts Medical Society

PMID:
19196676
[PubMed - indexed for MEDLINE]
PMCID:
PMC2925262
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Atypon Icon for PubMed Central
    Loading ...
    Write to the Help Desk