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Article

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

Biological psychiatry - 1 May 2011

Hamdan Fadi F, Daoud Hussein, Piton Amélie, Gauthier Julie, Dobrzeniecka Sylvia, Krebs Marie-Odile, Joober Ridha, Lacaille Jean-Claude, Nadeau Amélie, Milunsky Jeff M, Wang Zhenyuan, Carmant Lionel, Mottron Laurent, Beauchamp Miriam H, Rouleau Guy A, Michaud Jacques L

Abstract excerpt

BACKGROUND: Little is known about the genetics of nonsyndromic intellectual disability (NSID). Recently, we reported de novo truncating mutations in the SYNGAP1 gene of 3 of 94 NSID cases, suggesting that its disruption represents a common cause of autosomal dominant NSID. METHODS: To further exp...

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Identifiers

PMID: 21237447
DOI: 10.1016/j.biopsych.2010.11.015

Genes

SYNGAP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21237447-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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