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PMID: 22499536 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

The genetic variability and commonality of neurodevelopmental disease.

American journal of medical genetics. Part C, Seminars in medical genetics ·Vol. 160C ·No. 2 ·2012-05-15 ·Pages 118-29

Coe BP, Girirajan S, Eichler EE

Abstract

Despite detailed clinical definition and refinement of neurodevelopmental disorders and neuropsychiatric conditions, the underlying genetic etiology has proved elusive. Recent genetic studies have revealed some common themes: considerable locus heterogeneity, variable expressivity for the same mutation, and a role for multiple disruptive events in the same individual affecting genes in common pathways. Recurrent copy number variation (CNV), in particular, has emphasized the importance of either de novo or essentially private mutations creating imbalances for multiple genes. CNVs have foreshadowed a model where the distinction between milder neuropsychiatric conditions from those of severe developmental impairment may be a consequence of increased mutational burden affecting more genes.

MeSH Terms
Autistic Disorder/genetics Child DNA Copy Number Variations/genetics Developmental Disabilities/genetics Genetic Loci Genetic Predisposition to Disease Humans Mutation Rate
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Coe Bradley P
Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington School of Medicine, Seattle, WA, USA.
Girirajan Santhosh
Eichler Evan E
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Article Info
Journal
American journal of medical genetics. Part C, Seminars in medical genetics
Abbr.
Am J Med Genet C Semin Med Genet
ISSN
1552-4876
DOI
10.1002/ajmg.c.31327
Published
2012-05-15
Epub
2012-00-12
Pages
118-29
Language
English
Region
United States
NLM ID
101235745
PMCID
PMC4114147
Subset
IM
Grants
Howard Hughes Medical Institute · United States
CIHR · Canada
External Links
PubMed source DOI: 10.1002/ajmg.c.31327 PMC Full Text View journal details
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