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Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

Abstract:

Evidence for the etiology of autism spectrum disorders (ASDs) has consistently pointed to a strong genetic component complicated by substantial locus heterogeneity. We sequenced the exomes of 20 individuals with sporadic ASD (cases) and their parents, reasoning that these families would be enriched for de novo mutations of major effect. We identified 21 de novo mutations, 11 of which were protein altering. Protein-altering mutations were significantly enriched for changes at highly conserved ...

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Publication status:
Published

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Publisher copy:
10.1038/ng.835

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Institution:
University of Oxford
Department:
Oxford, MSD, Pathology Dunn School
Role:
Author
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Journal:
Nature genetics
Volume:
43
Issue:
6
Pages:
585-589
Publication date:
2011-06-05
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
URN:
uuid:ecd9c517-9232-4373-863a-a6c3bd7bcd15
Source identifiers:
149866
Local pid:
pubs:149866

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