A balanced translocation disrupting BCL2L10 and PNLDC1 segregates with affective psychosis.
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. © 2016 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley Periodicals, Inc.
Department of Psychiatry, Erasmus University Medical Center, Rotterdam, The Netherlands.|Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Christian G
CG
Bouwkamp
Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Anneke J A
AJ
Kievit
Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Simone
S
Olgiati
Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Guido J
GJ
Breedveld
Department of Psychiatry, Erasmus University Medical Center, Rotterdam, The Netherlands.
Michiel
M
Coesmans
Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Vincenzo
V
Bonifati
Department of Psychiatry, Erasmus University Medical Center, Rotterdam, The Netherlands.
Steven A
SA
Kushner
D000328:Adult; D000341:Affective Disorders, Psychotic / Q000235:genetics*; D001714:Bipolar Disorder / Q000235:genetics; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D003582:Cytogenetics / Q000379:methods; D005095:Exoribonucleases; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D019253:Proto-Oncogene Proteins c-bcl-2 / Q000235:genetics* / Q000378:metabolism; D011618:Psychotic Disorders / Q000235:genetics; D012559:Schizophrenia / Q000235:genetics; D017422:Sequence Analysis, DNA; D014178:Translocation, Genetic / Q000235:genetics
D005095:Exoribonucleases; D019253:Proto-Oncogene Proteins c-bcl-2; C117144:BCL2-like 10 protein
BCL2L10; PNLDC1; affective psychosis; balanced translocation; bipolar disorder; cytogenetics; schizoaffective disorder; whole-genome sequencing