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Annotation

Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet . 2010 Feb 14 ; PubMed Abstract

Comments on Paper and Primary News
Primary News: CNV “Double Whammies” May Account for Variable Neuropsychiatric Phenotypes

Comment by:  Ben Pickard
Submitted 25 February 2010 Posted 25 February 2010

In their Nature Genetics paper, Girirajan et al. contribute to the slow shift of focus in the field of complex genetic disorders, away from population risks towards the risks specific to the individual. The driving force of this shift is the ongoing discovery of mutations more penetrant than the common single nucleotide polymorphisms (SNPs) studied in case-control association studies. Copy number variants (CNVs) and coding variants are the two principal classes of these mutations, typified by their relative rarity, frequent familiality, and generally higher odds ratio (OR) values indicative of their impact.

Considerable evidence from increased levels of comorbidity, dysmorphic features, brain structural changes, and latent endophenotypes suggests that early neurodevelopmental deficits can predispose to later neuropsychiatric conditions (Ross et al., 2006). This paper demonstrates how the phenotype in a single individual can be more closely linked with the causative genotype when the simultaneous action of two CNVs is...  Read more


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