Authors
Simon L Girard, Julie Gauthier, Anne Noreau, Lan Xiong, Sirui Zhou, Loubna Jouan, Alexandre Dionne-Laporte, Dan Spiegelman, Edouard Henrion, Ousmane Diallo, Pascale Thibodeau, Isabelle Bachand, Jessie YJ Bao, Amy Hin Yan Tong, Chi-Ho Lin, Bruno Millet, Nematollah Jaafari, Ridha Joober, Patrick A Dion, Si Lok, Marie-Odile Krebs, Guy A Rouleau
Publication date
2011/9
Journal
Nature genetics
Volume
43
Issue
9
Pages
860-863
Publisher
Nature Publishing Group US
Description
Schizophrenia is a severe psychiatric disorder that profoundly affects cognitive, behavioral and emotional processes. The wide spectrum of symptoms and clinical variability in schizophrenia suggest a complex genetic etiology, which is consistent with the numerous loci thus far identified by linkage, copy number variation and association studies,,,. Although schizophrenia heritability may be as high as ∼80%, the genes responsible for much of this heritability remain to be identified. Here we sequenced the exomes of 14 schizophrenia probands and their parents. We identified 15 de novo mutations (DNMs) in eight probands, which is significantly more than expected considering the previously reported DNM rate,,. In addition, 4 of the 15 identified DNMs are nonsense mutations, which is more than what is expected by chance. Our study supports the notion that DNMs may account for some of the heritability reported for …
Total citations
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Scholar articles
SL Girard, J Gauthier, A Noreau, L Xiong, S Zhou… - Nature genetics, 2011