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

Autor: Bouwkamp CG; Department of Psychiatry, Erasmus University Medical Center, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., Kievit AJ; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., Olgiati S; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., Breedveld GJ; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., Coesmans M; Department of Psychiatry, Erasmus University Medical Center, Rotterdam, The Netherlands., Bonifati V; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., Kushner SA; Department of Psychiatry, Erasmus University Medical Center, Rotterdam, The Netherlands.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Genet] 2017 Apr; Vol. 174 (3), pp. 214-219. Date of Electronic Publication: 2016 Jun 03.
DOI: 10.1002/ajmg.b.32465
Abstrakt: 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.
(© 2016 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley Periodicals, Inc.)
Databáze: MEDLINE
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