Microduplications disrupting the MYT1L gene (2p25.3) are associated with schizophrenia.

ABSTRACT: Childhood-onset schizophrenia (COS) is a rare severe form of schizophrenia that may have greater salient genetic risk. Despite evidence for high heritability, conclusive genetic causes of schizophrenia remain elusive. Recent genomic technologies in concert with large case-control cohorts have led to several associations of highly penetrant rare copy number variants (CNVs) and schizophrenia. We previously reported two patients with COS who carried a microduplication disrupting the PXDN and MYT1L genes at 2p25.3. This rate of duplications within our COS population (N=92) is significantly higher than that in 2026 healthy controls (P=0.002). As a replication, we report a meta-analysis of four recently published studies that together provide strong evidence for an association between variably s

SUBMITTER: Lee Y 

PROVIDER: S-EPMC3384746 | biostudies-literature | 2012 Aug

REPOSITORIES: biostudies-literature