Ontology highlight
ABSTRACT:
SUBMITTER: Ambalavanan A
PROVIDER: S-EPMC4867457 | biostudies-literature | 2016 Jun
REPOSITORIES: biostudies-literature
Ambalavanan Amirthagowri A Girard Simon L SL Ahn Kwangmi K Zhou Sirui S Dionne-Laporte Alexandre A Spiegelman Dan D Bourassa Cynthia V CV Gauthier Julie J Hamdan Fadi F FF Xiong Lan L Dion Patrick A PA Joober Ridha R Rapoport Judith J Rouleau Guy A GA
European journal of human genetics : EJHG 20151028 6
Childhood-onset schizophrenia (COS), defined by the onset of illness before age 13 years, is a rare severe neurodevelopmental disorder of unknown etiology. Recently, sequencing studies have identified rare, potentially causative de novo variants in sporadic cases of adult-onset schizophrenia and autism. In this study, we performed exome sequencing of 17 COS trios in order to test whether de novo variants could contribute to this disease. We identified 20 de novo variants in 17 COS probands, whic ...[more]