TY - JOUR
T1 - Mutations in SYNGAPL in autosomai nonsyndromic mental retardation
AU - Hamdan, Fadi F.
AU - Gauthier, Julie
AU - Spiegelman, Dan
AU - Noreau, Anne
AU - Yang, Yan
AU - Pellerin, Stéphanie
AU - Dobrzeniecka, R. N.Sylvia
AU - Côté, Mélanie
AU - Perreault-Linck, Elizabeth
AU - Carmant, Lionel
AU - D'Anjou, Guy
AU - Fombonne, Éric
AU - Addington, Anjene M.
AU - Rapoport, Judith L.
AU - Delisi, Lynn E.
AU - Krebs, Marie Odile
AU - Mouaffak, Faycal
AU - Joober, Ridha
AU - Mottron, Laurent
AU - Drapeau, Pierre
AU - Marineau, Claude
AU - Lafrenière, Ronald G.
AU - Lacaille, Jean Claude
AU - Rouleau, Guy A.
AU - Michaud, Jacques L.
PY - 2009/2/5
Y1 - 2009/2/5
N2 - 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.
AB - 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.
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U2 - 10.1056/NEJMoa0805392
DO - 10.1056/NEJMoa0805392
M3 - Article
C2 - 19196676
AN - SCOPUS:59749085381
SN - 0028-4793
VL - 360
SP - 599
EP - 605
JO - New England Journal of Medicine
JF - New England Journal of Medicine
IS - 6
ER -