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 warrant further consideration for BCL2L10 and PNLDC1 as novel candidates for affective psychosis.

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Keywords Affective psychosis, Balanced translocation, BCL2L10, Bipolar disorder, Cytogenetics, PNLDC1, Schizoaffective disorder, Whole-genome sequencing
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Journal American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics
Bouwkamp, C.G, Kievit, A.J.A, Olgiati, S, Breedveld, G.J, Coesmans, M.P.H, Bonifati, V, & Kushner, S.A. (2016). A balanced translocation disrupting BCL2L10 and PNLDC1 segregates with affective psychosis. American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics. doi:10.1002/ajmg.b.32465