Increased exonic de novo mutation rate in individuals with schizophrenia.
Title | Increased exonic de novo mutation rate in individuals with schizophrenia. |
Publication Type | Journal Article |
Year of Publication | 2011 |
Authors | Girard, Simon L., Gauthier Julie, Noreau Anne, Xiong Lan, Zhou Sirui, Jouan Loubna, Dionne-Laporte Alexandre, Spiegelman Dan, Henrion Edouard, Diallo Ousmane, Thibodeau Pascale, Bachand Isabelle, Bao Jessie Y. J., Tong Amy Hin Yan, Lin Chi-Ho, Millet Bruno, Jaafari Nematollah, Joober Ridha, Dion Patrick A., Lok Si, Krebs Marie-Odile, and Rouleau Guy A. |
Journal | Nature genetics |
Volume | 43 |
Issue | 9 |
Pagination | 860-3 |
Date Published | 2011 Sep |
ISSN | 1546-1718 |
Keywords | DNA Mutational Analysis, Exons, Humans, Mutation, Pedigree, Schizophrenia |
Abstract | 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 schizophrenia while providing a list of genes possibly involved in disease pathogenesis. |
DOI | 10.1038/ng.886 |
Alternate Journal | Nat. Genet. |