Article
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
Human mutation - 1 Feb 2013
Berryer Martin H, Hamdan Fadi F, Klitten Laura L, Møller Rikke S, Carmant Lionel, Schwartzentruber Jeremy, Patry Lysanne, Dobrzeniecka Sylvia, Rochefort Daniel, Neugnot-Cerioli Mathilde, Lacaille Jean-Claude, Niu Zhiyv, Eng Christine M, Yang Yaping, Palardy Sylvain, Belhumeur Céline, Rouleau Guy A, Tommerup Niels, Immken Ladonna, Beauchamp Miriam H, Patel Gayle Simpson, Majewski Jacek, Tarnopolsky Mark A, Scheffzek Klaus, Hjalgrim Helle, Michaud Jacques L, Di Cristo Graziella
Abstract excerpt
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...
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