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PMID: 23714751 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

Shining a light on CNTNAP2: complex functions to complex disorders.

European journal of human genetics : EJHG ·Vol. 22 ·No. 2 ·2014-02-00 ·Pages 171-8

Rodenas-Cuadrado P, Ho J, Vernes SC

Abstract

The genetic basis of complex neurological disorders involving language are poorly understood, partly due to the multiple additive genetic risk factors that are thought to be responsible. Furthermore, these conditions are often syndromic in that they have a range of endophenotypes that may be associated with the disorder and that may be present in different combinations in patients. However, the emergence of individual genes implicated across multiple disorders has suggested that they might share similar underlying genetic mechanisms. The CNTNAP2 gene is an excellent example of this, as it has recently been implicated in a broad range of phenotypes including autism spectrum disorder (ASD), schizophrenia, intellectual disability, dyslexia and language impairment. This review considers the evidence implicating CNTNAP2 in these conditions, the genetic risk factors and mutations that have been identified in patient and population studies and how these relate to patient phenotypes. The role of CNTNAP2 is examined in the context of larger neurogenetic networks during development and disorder, given what is known regarding the regulation and function of this gene. Understanding the role of CNTNAP2 in diverse neurological disorders will further our understanding of how combinations of individual genetic risk factors can contribute to complex conditions.

MeSH Terms
Amino Acid Sequence Animals Genetic Predisposition to Disease Humans Language Development Disorders/genetics Membrane Proteins/genetics Molecular Sequence Data Mutation, Missense Nerve Net/pathology Nerve Tissue Proteins/genetics Nervous System Diseases/genetics Polymorphism, Single Nucleotide Risk Factors
Chemicals
CNTNAP2 protein, human Membrane Proteins Nerve Tissue Proteins
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Rodenas-Cuadrado Pedro
Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.
Ho Joses
1] Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands [2] Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Vernes Sonja C
1] Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands [2] Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.
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Article Info
Journal
European journal of human genetics : EJHG
Abbr.
Eur J Hum Genet
ISSN
1476-5438
DOI
10.1038/ejhg.2013.100
Published
2014-02-00
Epub
2013-00-29
Pages
171-8
Language
English
Region
England
NLM ID
9302235
PMCID
PMC3895625
Subset
IM
External Links
PubMed source DOI: 10.1038/ejhg.2013.100 PMC Full Text View journal details
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