Assessment of Potential Clinical Role for Exome Sequencing in Schizophrenia.

ABSTRACT:

Background

There is increasing evidence that certain genetic variants increase the risk of schizophrenia and other neurodevelopmental disorders. Exome sequencing has been shown to have a high diagnostic yield for developmental disability and testing for copy number variants has been advocated for schizophrenia. The diagnostic yield for exome sequencing in schizophrenia is unknown.

Method

A sample of 591 exome-sequenced schizophrenia cases and their parents were screened for disruptive and damaging variants in autosomal genes listed in the Genomics England panels for intellectual disability and other neurological disorders.

Results

Previously reported disruptive de novo variants were noted in SETD1A, POGZ, SCN2A, and ZMYND11. Although the loss of function of ZMYND11 is

SUBMITTER: Balakrishna T 

PROVIDER: S-EPMC7442403 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature