Disease susceptibility genes for autism.

Abstract:

:Autism is a complex neurodevelopmental disorder characterized by impairment in social interaction accompanied by a delay or lack of language, restricted interests, stereotyped behavior, and repetitive movement. Genetic predisposition to autism is evident from family and twin studies, and heritability in idiopathic autism is estimated at over 90%. Frequency of the disorder is approximately 1:2000 with a male to female ratio of 4:1. Affected individuals look normal at birth, and the symptoms manifest at the first 2-3 years of life. The spectrum of clinical symptoms and the severity of the disorder are variable even among siblings. Family studies and several genome-wide linkage analyses support the hypothesis of complex inheritance with involvement of as many as 10-100 genes of moderate effect. Identification of genes responsible for the phenotype would help to understand the molecular mechanisms of the disorder. Several genes have been proposed to play a role in susceptibility to autism, and this paper will overview those genes and their potential role in the disorder.

journal_name

Ann Med

journal_title

Annals of medicine

authors

Bespalova IN,Buxbaum JD

doi

10.1080/07853890310005966

subject

Has Abstract

pub_date

2003-01-01 00:00:00

pages

274-81

issue

4

eissn

0785-3890

issn

1365-2060

journal_volume

35

pub_type

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