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Major contribution of dominant inheritance to autism spectrum disorders (ASDs) in population-based families.

Abstract：

:Results of twin studies have shown that autism spectrum disorders (ASDs) are attributable to complex multigenic interactions rather than to a single susceptibility gene. However, the growing number of distinct, individually rare genetic causes of ASDs, mostly copy number variations (CNVs), favors an alternative to the polygenic hypothesis, the two-component model, which suggests that ASDs are caused either by de novo mutation or by dominant inheritance from asymptomatic carriers of such a mutation. To verify this hypothesis, we estimated the distribution of ASD-risk among both catchment area-based families and multiplex families. Our results suggest that the models with more than three risk components are preferable to the two-component model. Our results also suggest that the largest proportion of ASD cases is caused by dominant inheritance. We additionally show that Supplementary information regarding prevalence has a crucial role in analyzing proband-ascertained data.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Nishiyama T,Notohara M,Sumi S,Takami S,Kishino H

doi

10.1038/jhg.2009.105

subject

Has Abstract

pub_date

2009-12-01 00:00:00

pages

721-6

issue

12

eissn

1434-5161

issn

1435-232X

pii

jhg2009105

journal_volume

54

pub_type

杂志文章

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