Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

doi:10.1016/j.ajhg.2011.02.001

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Article

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

American journal of human genetics - 11 Mar 2011

Hamdan Fadi F, Gauthier Julie, Araki Yoichi, Lin Da-Ting, Yoshizawa Yuhki, Higashi Kyohei, Park A-Reum, Spiegelman Dan, Dobrzeniecka Sylvia, Piton Amélie, Tomitori Hideyuki, Daoud Hussein, Massicotte Christine, Henrion Edouard, Diallo Ousmane, Shekarabi Masoud, Marineau Claude, Shevell Michael, Maranda Bruno, Mitchell Grant, Nadeau Amélie, D'Anjou Guy, Vanasse Michel, Srour Myriam, Lafrenière Ronald G, Drapeau Pierre, Lacaille Jean Claude, Kim Eunjoon, Lee Jae-Ran, Igarashi Kazuei, Huganir Richard L, Rouleau Guy A, Michaud Jacques L

Abstract excerpt

Little is known about the genetics of nonsyndromic intellectual disability (NSID). We hypothesized that de novo mutations (DNMs) in synaptic genes explain an important fraction of sporadic NSID cases. In order to investigate this possibility, we sequenced 197 genes encoding glutamate receptors and a large subset of their known interacting proteins in 95 sporadic cases of NSID. We found 11 DNMs, including ten...

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Identifiers

PMID: 21376300
DOI: 10.1016/j.ajhg.2011.02.001
PMCID: PMC3059427

Genes

GRIN1
CACNG2
STXBP1
SYNGAP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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