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, Eric 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 journalArticle

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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.

Original languageEnglish (US)
Pages (from-to)599-605
Number of pages7
JournalNew England Journal of Medicine
Volume360
Issue number6
StatePublished - Feb 5 2009
Externally publishedYes

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Intellectual Disability
Mutation
ras GTPase-Activating Proteins
Synapses
Cognition
Genes
Schizophrenia

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Hamdan, F. F., Gauthier, J., Spiegelman, D., Noreau, A., Yang, Y., Pellerin, S., ... Michaud, J. L. (2009). Mutations in SYNGAPL in autosomai nonsyndromic mental retardation. New England Journal of Medicine, 360(6), 599-605.

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

In: New England Journal of Medicine, Vol. 360, No. 6, 05.02.2009, p. 599-605.

Research output: Contribution to journalArticle

Hamdan, FF, Gauthier, J, Spiegelman, D, Noreau, A, Yang, Y, Pellerin, S, Dobrzeniecka, RNS, Côté, M, Perreault-Linck, E, Carmant, L, D'Anjou, G, Fombonne, E, Addington, AM, Rapoport, JL, Delisi, LE, Krebs, MO, Mouaffak, F, Joober, R, Mottron, L, Drapeau, P, Marineau, C, Lafrenière, RG, Lacaille, JC, Rouleau, GA & Michaud, JL 2009, 'Mutations in SYNGAPL in autosomai nonsyndromic mental retardation', New England Journal of Medicine, vol. 360, no. 6, pp. 599-605.
Hamdan FF, Gauthier J, Spiegelman D, Noreau A, Yang Y, Pellerin S et al. Mutations in SYNGAPL in autosomai nonsyndromic mental retardation. New England Journal of Medicine. 2009 Feb 5;360(6):599-605.
Hamdan, Fadi F. ; Gauthier, Julie ; Spiegelman, Dan ; Noreau, Anne ; Yang, Yan ; Pellerin, Stéphanie ; Dobrzeniecka, R. N Sylvia ; Côté, Mélanie ; Perreault-Linck, Elizabeth ; Carmant, Lionel ; D'Anjou, Guy ; Fombonne, Eric ; Addington, Anjene M. ; Rapoport, Judith L. ; Delisi, Lynn E. ; Krebs, Marie Odile ; Mouaffak, Faycal ; Joober, Ridha ; Mottron, Laurent ; Drapeau, Pierre ; Marineau, Claude ; Lafrenière, Ronald G. ; Lacaille, Jean Claude ; Rouleau, Guy A. ; Michaud, Jacques L. / Mutations in SYNGAPL in autosomai nonsyndromic mental retardation. In: New England Journal of Medicine. 2009 ; Vol. 360, No. 6. pp. 599-605.
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AU - Pellerin, Stéphanie

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AU - Drapeau, Pierre

AU - Marineau, Claude

AU - Lafrenière, Ronald G.

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AU - Michaud, Jacques L.

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