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Article

De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

American journal of medical genetics. Part A - 1 Oct 2015

Parker Michael J, Fryer Alan E, Shears Deborah J, Lachlan Katherine L, McKee Shane A, Magee Alex C, Mohammed Shehla, Vasudevan Pradeep C, Park Soo-Mi, Benoit Valérie, Lederer Damien, Maystadt Isabelle, Study Ddd, FitzPatrick David R

Abstract excerpt

De novo mutations (DNM) in SYNGAP1, encoding Ras/Rap GTPase-activating protein SynGAP, have been reported in individuals with nonsyndromic intellectual disability (ID). We identified 10 previously unreported individuals with SYNGAP1 DNM; seven via the Deciphering Developmental Disorders (DDD) Study, one through clinical analysis for copy number variation and the remaining two (monozygotic twins) via a research...

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Source

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Identifiers

PMID: 26079862
DOI: 10.1002/ajmg.a.37189
PMCID: PMC4744742

Genes

SYNGAP1

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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