De novo mutations from sporadic schizophrenia cases highlight important signaling genes in an independent sample.

ABSTRACT: Schizophrenia is a debilitating syndrome with high heritability. Genomic studies reveal more than a hundred genetic variants, largely nonspecific and of small effect size, and not accounting for its high heritability. De novo mutations are one mechanism whereby disease related alleles may be introduced into the population, although these have not been leveraged to explore the disease in general samples. This paper describes a framework to find high impact genes for schizophrenia. This study consists of two different datasets. First, whole exome sequencing was conducted to identify disruptive de novo mutations in 14 complete parent-offspring trios with sporadic schizophrenia from Jerusalem, which identified 5 sporadic cases with de novo gene mutations in 5 different genes (PTPRG, TGM5, SLC3

SUBMITTER: Kranz TM 

PROVIDER: S-EPMC4512856 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature