A balanced translocation disrupting BCL2L10 and PNLDC1 segregates with affective psychosis.

ABSTRACT: Affective psychoses are a group of severe psychiatric disorders, including schizoaffective disorder and bipolar I disorder, together affecting ∼1% of the population. Despite their high heritability, the molecular genetics and neurobiology of affective psychosis remain largely elusive. Here, we describe the identification of a structural genetic variant segregating with affective psychosis in a family with multiple members suffering from bipolar I disorder or schizoaffective disorder, bipolar type. A balanced translocation involving chromosomes 6 and 15 was detected by karyotyping and fluorescence in-situ hybridization (FISH). Using whole-genome sequencing, we rapidly delineated the translocation breakpoints as corresponding intragenic events disrupting BCL2L10 and PNLDC1. These data warran

SUBMITTER: Bouwkamp CG 

PROVIDER: S-EPMC5363242 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature