Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.

doi:10.1016/j.biopsych.2010.02.002

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Article

Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia.

Biological psychiatry - 15 Aug 2010

Pagnamenta Alistair T, Bacchelli Elena, de Jonge Maretha V, Mirza Ghazala, Scerri Thomas S, Minopoli Fiorella, Chiocchetti Andreas, Ludwig Kerstin U, Hoffmann Per, Paracchini Silvia, Lowy Ernesto, Harold Denise H, Chapman Jade A, Klauck Sabine M, Poustka Fritz, Houben Renske H, Staal Wouter G, Ophoff Roel A, O'Donovan Michael C, Williams Julie, Nöthen Markus M, Schulte-Körne Gerd, Deloukas Panos, Ragoussis Jiannis, Bailey Anthony J, Maestrini Elena, Monaco Anthony P

Abstract excerpt

BACKGROUND: Autism spectrum disorders (ASDs) are characterized by social, communication, and behavioral deficits and complex genetic etiology. A recent study of 517 ASD families implicated DOCK4 by single nucleotide polymorphism (SNP) association and a microdeletion in an affected sibling pair. METHODS: The DOCK4 microdeletion on 7q31.1 was further characterized in this family using QuantiSNP analysis of 1M SNP...

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Identifiers

PMID: 20346443
DOI: 10.1016/j.biopsych.2010.02.002
PMCID: PMC2941017

Genes

DOCK4
CNTNAP5

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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