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Article

Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders.

PloS one - 1 Jan 2014

Huguet Guillaume, Nava Caroline, Lemière Nathalie, Patin Etienne, Laval Guillaume, Ey Elodie, Brice Alexis, Leboyer Marion, Szepetowski Pierre, Gillberg Christopher, Depienne Christel, Delorme Richard, Bourgeron Thomas

Abstract excerpt

Inherited and de novo genomic imbalances at chromosome 16p11.2 are associated with autism spectrum disorders (ASD), but the causative genes remain unknown. Among the genes located in this region, PRRT2 codes for a member of the synaptic SNARE complex that allows the release of synaptic vesicles. PRRT2 is a candidate gene for ASD since homozygote mutations are associated with intellectual disability and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24594579
DOI: 10.1371/journal.pone.0088600
PMCID: PMC3940422

Genes

PRRT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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