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Article

Genetic variants in autism-related CNTNAP2 impair axonal growth of cortical neurons.

Human molecular genetics - 1 Jun 2018

Canali Giorgia, Garcia Marta, Hivert Bruno, Pinatel Delphine, Goullancourt Aline, Oguievetskaia Ksenia, Saint-Martin Margaux, Girault Jean-Antoine, Faivre-Sarrailh Catherine, Goutebroze Laurence

Abstract excerpt

The CNTNAP2 gene, coding for the cell adhesion glycoprotein Caspr2, is thought to be one of the major susceptibility genes for autism spectrum disorder (ASD). A large number of rare heterozygous missense CNTNAP2 variants have been identified in ASD patients. However, most of them are inherited from an unaffected parent, questioning their clinical significance. In the present study, we evaluate their impact on...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29788201
DOI: 10.1093/hmg/ddy102

Genes

CNTNAP2

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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