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PMID: 19348707 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Review

Genetics of autism spectrum disorders.

Current neurology and neuroscience reports ·Vol. 9 ·No. 3 ·2009-05-00 ·Pages 188-97

Kumar RA, Christian SL

Abstract

Autism spectrum disorders (ASDs) are a clinically complex group of childhood disorders that have firm evidence of an underlying genetic etiology. Many techniques have been used to characterize the genetic bases of ASDs. Linkage studies have identified several replicated susceptibility loci, including 2q24-2q31, 7q, and 17q11-17q21. Association studies and mutation analysis of candidate genes have implicated the synaptic genes NRXN1, NLGN3, NLGN4, SHANK3, and CNTNAP2 in ASDs. Traditional cytogenetic approaches highlight the high frequency of large chromosomal abnormalities (3%-7% of patients), including the most frequently observed maternal 15q11-13 duplications (1%-3% of patients). Newly developed techniques include high-resolution DNA microarray technologies, which have discovered formerly undetectable submicroscopic copy number variants, and genomewide association studies, which allow simultaneous detection of multiple genes associated with ASDs. Although great progress has been made in autism genetics, the molecular bases of most ASDs remains enigmatic.

MeSH Terms
Autistic Disorder/genetics Chromosome Mapping DNA Mutational Analysis Genetic Predisposition to Disease Genome-Wide Association Study Humans
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Kumar Ravinesh A
Department of Human Genetics, University of Chicago, 920 East 58th Street, MC0077, Chicago, IL 60637, USA. [email protected]
Christian Susan L
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Article Info
Journal
Current neurology and neuroscience reports
Abbr.
Curr Neurol Neurosci Rep
ISSN
1534-6293
DOI
10.1007/s11910-009-0029-2
Email
[email protected]
Published
2009-05-00
Pages
188-97
Language
English
Region
United States
NLM ID
100931790
Subset
IM
Grants
NINDS NIH HHS · 1R01 NS51812 · United States
External Links
PubMed source DOI: 10.1007/s11910-009-0029-2 View journal details
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