A unified genetic theory for sporadic and inherited autism

Zhao, X., Leotta, A., Kustanovich, V., Lajonchere, C., Geschwind, D. H., Law, K., Law, P., Qiu, S., Lord, C., Sebat, J., Ye, K., Wigler, M. H. (2007) A unified genetic theory for sporadic and inherited autism. Proc Natl Acad Sci U S A, 104 (31). pp. 12831-12836. ISSN 0027-8424 (Print)

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URL: https://www.ncbi.nlm.nih.gov/pubmed/17652511
DOI: 10.1073/pnas.0705803104

Abstract

Autism is among the most clearly genetically determined of all cognitive-developmental disorders, with males affected more often than females. We have analyzed autism risk in multiplex families from the Autism Genetic Resource Exchange (AGRE) and find strong evidence for dominant transmission to male offspring. By incorporating generally accepted rates of autism and sibling recurrence, we find good fit for a simple genetic model in which most families fall into two types: a small minority for whom the risk of autism in male offspring is near 50%, and the vast majority for whom male offspring have a low risk. We propose an explanation that links these two types of families: sporadic autism in the low-risk families is mainly caused by spontaneous mutation with high penetrance in males and relatively poor penetrance in females; and high-risk families are from those offspring, most often females, who carry a new causative mutation but are unaffected and in turn transmit the mutation in dominant fashion to their offspring.

Item Type: Paper
Uncontrolled Keywords: human genetics neurodevelopmental disorders population genetics
Subjects: diseases & disorders > mental disorders > personality disorders > autism
organism description > animal > gender > male
CSHL Authors:
Communities: CSHL labs > Wigler lab
Depositing User: CSHL Librarian
Date Deposited: 01 Nov 2011 14:53
Last Modified: 16 Nov 2016 19:42
PMCID: PMC1933261
Related URLs:
URI: http://repository.cshl.edu/id/eprint/23194

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