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Article

SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth.

Human molecular genetics - 1 Jan 2014

Corradi Anna, Fadda Manuela, Piton Amélie, Patry Lysanne, Marte Antonella, Rossi Pia, Cadieux-Dion Maxime, Gauthier Julie, Lapointe Line, Mottron Laurent, Valtorta Flavia, Rouleau Guy A, Fassio Anna, Benfenati Fabio, Cossette Patrick

Abstract excerpt

An increasing number of genes predisposing to autism spectrum disorders (ASDs) has been identified, many of which are implicated in synaptic function. This 'synaptic autism pathway' notably includes disruption of SYN1 that is associated with epilepsy, autism and abnormal behavior in both human and mice models. Synapsins constitute a multigene family of neuron-specific phosphoproteins (SYN1-3) present in the...

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Identifiers

PMID: 23956174
DOI: 10.1093/hmg/ddt401
PMCID: PMC3857945

Genes

SYN2
SYN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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