Definition
16p11.2 refers to a particular region on the short (p) arm of chromosome 16 that corresponds to an approximately 500 kilobase copy number variation (CNV) that is strongly associated with the risk for ASD. The region contains 28 genes and is flanked by segmental duplications (stretches of near-identical DNA). These are known to increase the likelihood of a process known as nonhomologous allelic recombination, which can lead to gains or losses of the chromosomal segment flanked by these repeats.
The importance of deletions and duplications at 16p11.2 in ASD was recognized simultaneously by three research groups (Kumar et al., 2008; Marshall et al., 2008; Weiss et al., 2008). These findings have since been replicated multiple times. 16p11.2 CNVs are found in about 1% of individuals with autism, compared with less than 0.1% of the population. CNVs in this region have also been associated with intellectual disability, developmental delay, schizophrenia (duplications only), and...
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References and Readings
Kumar, R. A., KaraMohamed, S., Sudi, J., Conrad, D. F., Brune, C., Badner, J. A., et al. (2008). Recurrent 16p.112 microdeletions in autism. Human Molecular Genetics, 17(4), 628–638.
Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., et al. (2008). Structural variation of chromosomes in autism spectrum disorder. American Journal of Human Genetics, 82(2), 477–488.
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., et al. (2008). Association between microdeletion and microduplication at 16p.112 and autism. The New England Journal of Medicine, 358(7), 667–675.
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Sanders, S. (2013). 16p11.2. In: Volkmar, F.R. (eds) Encyclopedia of Autism Spectrum Disorders. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-1698-3_1987
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DOI: https://doi.org/10.1007/978-1-4419-1698-3_1987
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