Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.

  title={Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.},
  author={Fadi Hamdan and Julie L Gauthier and Dan Spiegelman and Anne Noreau and Yan Yang and St{\'e}phanie Pellerin and Sylvia Dobrzeniecka and M{\'e}lanie C{\^o}t{\'e} and Elizabeth Perreau-Linck and Lionel Carmant and Guy D'anjou and E. J. Fombonne and Anjen{\'e} M Addington and Judith L. Rapoport and Lynn E. DeLisi and Marie-Odile Krebs and Fayçal Mouaffak and Ridha Joober and Laurent Mottron and Pierre Drapeau and Claude Marineau and Ronald G. Lafreni{\'e}re and J. C. Lacaille and Guy Rouleau and Jacques L. Michaud},
  journal={The New England journal of medicine},
  volume={360 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… CONTINUE READING
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