Genetic architecture in autism spectrum disorder

Bernie Devline, Stephen W Scherer, Genetic architecture in autism spectrum disorder, Curr Opin Genet Dev (2012) 22:1-9

Family studies indicate a significant genetic basis for ASD susceptibility.

Some 5-15% of individuals with ASD have an identifiable genetic etiology corresponding to known chromosomal rearrangements or single gene disorders.

Rare de novo or inherited copy number variations (CNVs) are observed in 5-10% of idiopathic ASD cases.

Concordance for a phenotype of either autism or milder cognitive and social deficits was 82% among monozygotic (MZ) twins, compared with ~10% in DZ twin paris.

At this writing, large-scale sequencing projects have been initiated, to target the majority of genie regions from hundreds of families with ASD.

Evidence is tenuous for individual common variants that affect risk of ASD.

De novo genetic variation has an important role in risk for an ASD phenotype.

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