Duplications in RB1CC1 are associated with schizophrenia; identification in large European sample sets.

ABSTRACT: Schizophrenia (SCZ) is a severe and debilitating neuropsychiatric disorder with an estimated heritability of ~80%. Recently, de novo mutations, identified by next-generation sequencing (NGS) technology, have been suggested to contribute to the risk of developing SCZ. Although these studies show an overall excess of de novo mutations among patients compared with controls, it is not easy to pinpoint specific genes hit by de novo mutations as actually involved in the disease process. Importantly, support for a specific gene can be provided by the identification of additional alterations in several independent patients. We took advantage of existing genome-wide single-nucleotide polymorphism data sets to screen for deletions or duplications (copy number variations, CNVs) in genes previously im

SUBMITTER: Degenhardt F 

PROVIDER: S-EPMC3849960 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature