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Semin Pediatr Neurol. 2004 Sep;11(3):196-204.

The genetics of autism.

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UCLA Center for Autism Research and Treatment, UCLA Neuropsychiatric Institute, and Mattel Children's Hospital at UCLA, David Geffen School of Medicine, Los Angeles, CA, USA.


Autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric disorders. Discovery of autism susceptibility genes has been the focus of intense research efforts over the last 10 years, and current estimates suggest that 10 to 20 different interacting genes are involved. Evidence from twin and family studies demonstrates increased risk in family members not only for autistic disorder, but also for a milder constellation of similar symptoms referred to as the broader phenotype. In addition, several genetic syndromes and chromosomal anomalies have been associated with ASD. Large family studies using linkage-analysis techniques have demonstrated several chromosomal regions thought to harbor genes related to the disorder. Finally, specific candidate genes based on function and location have been explored; these studies are reviewed here.

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