Sequencing of the coding regions of GNBIL on chromosome 22q11.2 as a risk gene of schizophrenia

Yu-Yuan Wang; Shih-Hsin Hsu; Hsin-Yao Tsai; Min-Chih Cheng

doi:10.1016/j.psychres.2021.113943

Sequencing of the coding regions of GNBIL on chromosome 22q11.2 as a risk gene of schizophrenia

Psychiatry Res. 2021 Jun:300:113943. doi: 10.1016/j.psychres.2021.113943. Epub 2021 Apr 18.

Authors

Yu-Yuan Wang¹, Shih-Hsin Hsu¹, Hsin-Yao Tsai¹, Min-Chih Cheng²

Affiliations

¹ Department of Psychiatry, Yuli Branch, Taipei Veterans General Hospital, Hualien County, Taiwan.
² Department of Psychiatry, Yuli Branch, Taipei Veterans General Hospital, Hualien County, Taiwan. Electronic address: [email protected].

PMID: 33932639
DOI: 10.1016/j.psychres.2021.113943

Abstract

GNB1L haploinsufficiency caused by 22q11.2 deletion syndrome may contribute to schizophrenia pathophysiology. We resequenced the protein-coding sequences of GNB1L in 553 patients with schizophrenia and 535 controls from Taiwan. Four common single-nucleotide polymorphisms showed no association with patients with schizophrenia. We identified 17 rare missense mutations, including three that were schizophrenia-associated and predicted as pathogenic (p.R57W, p.G68S, and p.R265C). Given that rare mutations with high penetrance contribute to schizophrenia, missense mutations of GNB1L might increase the risk of schizophrenia in some patients.

Keywords: GNB1L; Missense mutations; Schizophrenia.

MeSH terms

Chromosome Deletion
Chromosomes, Human, Pair 22 / genetics
DiGeorge Syndrome*
Genetic Predisposition to Disease
Humans
Intracellular Signaling Peptides and Proteins / genetics*
Polymorphism, Single Nucleotide
Schizophrenia* / genetics

Substances

GNB1L protein, human
Intracellular Signaling Peptides and Proteins