A new study compares the copy number variants (CNVs) in 29,085 children with developmental delay to those in 19,584 healthy controls, providing a valuable compilation of such data. The phenotypic variability and wide range of penetrance for these variants present societal challenges regarding how these findings might be incorporated into newborn screening, early intervention and, perhaps, carrier testing and prenatal diagnosis.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on SpringerLink
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
References
Schaaf, C.P., Wiszniewska, J. & Beaudet, A.L. Annu. Rev. Genomics Hum. Genet. 12, 25–51 (2011).
Battaglia, A. et al. Eur. J. Paediatr. Neurol. 17, 589–599 (2013).
Coe, B.P. et al. Nat. Genet. 46, 1063–1071 (2014).
Sebat, J. et al. Science 305, 525–528 (2004).
Liu, P., Carvalho, C.M., Hastings, P.J. & Lupski, J.R. Curr. Opin. Genet. Dev. 22, 211–220 (2012).
Swaminathan, G.J. et al. Hum. Mol. Genet. 21, R37–R44 (2012).
Stefansson, H. et al. Nature 455, 232–236 (2008).
Malhotra, D. et al. Neuron 72, 951–963 (2011).
Allen, A.S. et al. Nature 501, 217–221 (2013).
Wapner, R.J. et al. N. Engl. J. Med. 367, 2175–2184 (2012).
Albers, C.A. et al. Nat. Genet. 44, 435–439 (2012).
Girirajan, S. et al. N. Engl. J. Med. 367, 1321–1331 (2012).
Lepichon, J.B., Bittel, D.C., Graf, W.D. & Yu, S. Am. J. Med. Genet. A. 152A, 1300–1304 (2010).
Ledbetter, D.H. et al. in Genomic and Personalized Medicine 2nd edn (eds. Ginsburg, G.S. & Willard, H.F.) Ch. 11, 133–144 (Elsevier/Academic Press, Amsterdam, 2013).
Pillas, D. et al. Pediatr. Res. doi:10.1038/pr.2014.122 (14 August 2014).
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
A.L.B. is a member of the Department of Molecular and Human Genetics at Baylor College of Medicine. This department offers extensive genetic laboratory testing and derives revenue from this activity.
Supplementary information
Supplementary Table 1
Broad categorization of CNVs (PDF 50 kb)
Rights and permissions
About this article
Cite this article
Beaudet, A. Reaching a CNV milestone. Nat Genet 46, 1046–1048 (2014). https://doi.org/10.1038/ng.3106
Published:
Issue Date:
DOI: https://doi.org/10.1038/ng.3106