Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

@article{Berryer2013MutationsIS,
  title={Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.},
  author={Martin H Berryer and Fadi Hamdan and Laura Line Klitten and Rikke Steensbjerre M\oller and Lionel Carmant and Jeremy Schwartzentruber and Lysanne Patry and Sylvia Dobrzeniecka and Daniel L. Rochefort and Mathilde Neugnot-Cerioli and Jean-Claude Lacaille and Zhiyv Niu and Christine M. Eng and Yaping Yang and Sylvain Palardy and C{\'e}line Belhumeur and Guy Rouleau and Niels Tommerup and Ladonna L Immken and Miriam H Beauchamp and Gayle Simpson Patel and Jacek Majewski and Mark A Tarnopolsky and Klaus Scheffzek and Helle Hjalgrim and Jacques L. Michaud and Graziella di Cristo},
  journal={Human mutation},
  year={2013},
  volume={34 2},
  pages={385-94}
}
De novo mutations in SYNGAP1, which codes for a RAS/RAP GTP-activating protein, cause nonsyndromic intellectual disability (NSID). All disease-causing point mutations identified until now in SYNGAP1 are truncating, raising the possibility of an association between this type of mutations and NSID. Here, we report the identification of the first pathogenic missense mutations (c.1084T>C [p.W362R], c.1685C>T [p.P562L]) and three novel truncating mutations (c.283dupC [p.H95PfsX5], c.2212_2213del [p… CONTINUE READING