NeuroMolecular Medicine

, Volume 8, Issue 4, pp 451–460

The genetics of autism spectrum disorders

Review Article

DOI: 10.1385/NMM:8:4:451

Cite this article as:
Grice, D.E. & Buxbaum, J.D. Neuromol Med (2006) 8: 451. doi:10.1385/NMM:8:4:451


Epidemiological twin studies demonstrate that autism spectrum disorders (ASDs) represent genetic disorders. Subsequent analyses indicate that the causes of ASDs include less common single-gene mutations and chromosomal abnormalities, as well as ASDs caused by multiple interacting genes of weak effect. Genome-wide linkage analysis has identified several susceptibility loci for the ASDs, and positional and functional candidate genes have been identified that appear to represent susceptibility genes for the ASDs. Analysis of additional larger samples and the use of genome-wide association and high-throughput variant detection will lead to the identification of further genes for ASDs.

Index Entries

Association autism spectrum disorders genetics linkage pervasive developmental disorders susceptibility locus 

Copyright information

© Humana Press Inc 2006

Authors and Affiliations

  1. 1.Department of PsychiatryUMDNJ/New Jersey Medical SchoolNewark
  2. 2.Laboratory of Molecular Neuropsychiatry, Departments of Psychiatry, Neuroscience and Ceriatrics and Adult DevelopmentMount Sinai School of MedicineNew York

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