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Article

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.

American journal of human genetics - 1 Jan 2008

Bakkaloglu Betul, O'Roak Brian J, Louvi Angeliki, Gupta Abha R, Abelson Jesse F, Morgan Thomas M, Chawarska Katarzyna, Klin Ami, Ercan-Sencicek A Gulhan, Stillman Althea A, Tanriover Gamze, Abrahams Brett S, Duvall Jackie A, Robbins Elissa M, Geschwind Daniel H, Biederer Thomas, Gunel Murat, Lifton Richard P, State Matthew W

Abstract excerpt

Autism spectrum disorders (ASD) are a group of related neurodevelopmental syndromes with complex genetic etiology. We identified a de novo chromosome 7q inversion disrupting Autism susceptibility candidate 2 (AUTS2) and Contactin Associated Protein-Like 2 (CNTNAP2) in a child with cognitive and social delay. We focused our initial analysis on CNTNAP2 based on our demonstration of disruption of Contactin 4 (CNTN4)...

Topics

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Autistic Disorder
Child
Genetic Predisposition to Disease
Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nerve Tissue Proteins

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Open in PubMed Open full text

Identifiers

PMID: 18179895
DOI: 10.1016/j.ajhg.2007.09.017
PMCID: PMC2253974

Genes

CNTNAP2
AUTS2
CNTN4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.PMID 18179895Read ↗

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