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Article

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.

American journal of human genetics - 1 Nov 2009

Zweier Christiane, de Jong Eiko K, Zweier Markus, Orrico Alfredo, Ousager Lilian B, Collins Amanda L, Bijlsma Emilia K, Oortveld Merel A W, Ekici Arif B, Reis André, Schenck Annette, Rauch Anita

Abstract excerpt

Heterozygous copy-number variants and SNPs of CNTNAP2 and NRXN1, two distantly related members of the neurexin superfamily, have been repeatedly associated with a wide spectrum of neuropsychiatric disorders, such as developmental language disorders, autism spectrum disorders, epilepsy, and schizophrenia. We now identified homozygous and compound-heterozygous deletions and mutations via molecular karyotyping and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19896112
DOI: 10.1016/j.ajhg.2009.10.004
PMCID: PMC2775834

Genes

CNTNAP2
NRXN1

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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CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.PMID 19896112Read ↗

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