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.
The genetic variability and commonality of neurodevelopmental disease†
Article first published online: 12 APR 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Autism and Intellectual Disability: Two Sides of the Same Coin
Volume 160C, Issue 2, pages 118–129, 15 May 2012
How to Cite
Coe, B. P., Girirajan, S. and Eichler, E. E. (2012), The genetic variability and commonality of neurodevelopmental disease. Am. J. Med. Genet., 160C: 118–129. doi: 10.1002/ajmg.c.31327
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.
- Issue published online: 19 APR 2012
- Article first published online: 12 APR 2012
- copy number variants;
- variable penetrance;
- genomic disorders;
- intellectual disability
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.