The genetic variability and commonality of neurodevelopmental disease

Authors

  • Bradley P. Coe,

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    • Bradley P. Coe is a postdoctoral fellow in Evan Eichler's group in the Department of Genome Sciences at the University of Washington School of Medicine, where he is supported by a fellowship from the Canadian Institutes of Health Research. His current work focuses on the identification and study of rare copy number variation in intellectual disability and developmental delay.

  • Santhosh Girirajan,

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    • Santhosh Girirajan is a postdoctoral fellow in Evan Eichler's group in the Department of Genome Sciences at the University of Washington School of Medicine. His research interest involves unraveling the genetic basis of variable phenotypes associated with pathogenic CNVs (i.e., genomic disorders).

  • Evan E. Eichler

    Corresponding author
    • Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington School of Medicine, Seattle, WA.
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    • Evan E. Eichler is a professor and Howard Hughes Medical Institute investigator in the Department of Genome Sciences at the University of Washington School of Medicine. He received his Ph.D. in 1995 from the Department of Molecular and Human Genetics at Baylor College of Medicine in Houston, Texas, USA. He is a fellow of the American Association for the Advancement of Science and was a recipient of the American Society of Human Genetics Curt Stern Award in 2008. His research group develops experimental and computational methods for studying genome structural variation in evolution and human disease.


  • How to cite this article: Coe BP, Girirajan S, Eichler EE. 2012. The genetic variability and commonality of neurodevelopmental disease. Am J Med Genet Part C Semin Med Genet 160C:118–129.

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. © 2012 Wiley Periodicals, Inc.

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