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Article

22q11.2 deletion carriers and schizophrenia-associated novel variants.

The British journal of psychiatry : the journal of mental science - 1 Jan 2014

Balan S, Iwayama Y, Toyota T, Toyoshima M, Maekawa M, Yoshikawa T

Abstract excerpt

The penetrance of schizophrenia risk in carriers of the 22q11.2 deletion is high but incomplete, suggesting the possibility of additional genetic defects. We performed whole exome sequencing on two individuals with 22q11.2 deletion, one with schizophrenia and the other who was psychosis-free. The results revealed novel genetic variants related to neuronal function exclusively in the person with schizophrenia...

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Source

Identifiers

PMID: 24482440
DOI: 10.1192/bjp.bp.113.138420

Genes

APOH
CLVS2
EFCAB11
KAT8
SNX31

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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