Ontology highlight
ABSTRACT:
SUBMITTER: Takata A
PROVIDER: S-EPMC4387883 | biostudies-literature | 2014 May
REPOSITORIES: biostudies-literature
Neuron 20140501 4
Loss-of-function (LOF) (i.e., nonsense, splice site, and frameshift) variants that lead to disruption of gene function are likely to contribute to the etiology of neuropsychiatric disorders. Here, we perform a systematic investigation of the role of both de novo and inherited LOF variants in schizophrenia using exome sequencing data from 231 case and 34 control trios. We identify two de novo LOF variants in the SETD1A gene, which encodes a subunit of histone methyltransferase, a finding unlikely ...[more]