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Identification of rare variants in KCTD13 at the schizophrenia risk locus 16p11.2

Degenhardt, Franziska and Heinemann, Barbara and Strohmaier, Jana and Pfohl, Marvin A. and Giegling, Ina and Hofmann, Andrea and Ludwig, Kerstin U. and Witt, Stephanie H. and Ludwig, Michael and Forstner, Andreas J. and Albus, Margot and Schwab, Sibylle G. and Borrmann-Hassenbach, Margitta and Lennertz, Leonard and Wagner, Michael and Hoffmann, Per and Rujescu, Dan and Maier, Wolfgang and Cichon, Sven and Rietschel, Marcella and Nothen, Markus M.. (2016) Identification of rare variants in KCTD13 at the schizophrenia risk locus 16p11.2. Psychiatric Genetics, 26 (6). pp. 293-296.

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Abstract

Duplications in 16p11.2 are a risk factor for schizophrenia (SCZ). Using genetically modified zebrafish, Golzio and colleagues identified KCTD13 within 16p11.2 as a major driver of the neuropsychiatric phenotype observed in humans. The aims of the present study were to explore the role of KCTD13 in the development of SCZ and to provide a more complete picture of the allelic architecture at this risk locus. The exons of KCTD13 were sequenced in 576 patients. The mutations c.6G<T and c.598G<A were identified in one patient each. Both mutations were predicted to be functionally relevant and were absent from the 1000 Genomes Project data and the Exome Variant Server. The mutation c.6G<T was predicted to abolish a potential transcription factor-binding site for specifity protein 1. Altered specifity protein 1 expression has been reported in SCZ patients compared with controls. Further studies in large cohorts are warranted to determine the relevance of the two identified mutations.
Faculties and Departments:03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Applied Microbiology Research (Egli)
UniBasel Contributors:Egli, Adrian
Item Type:Article, refereed
Article Subtype:Research Article
Publisher:Lippincott Williams & Wilkins
ISSN:0955-8829
e-ISSN:1473-5873
Note:Publication type according to Uni Basel Research Database: Journal article
Language:English
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Last Modified:09 Apr 2019 16:05
Deposited On:25 May 2018 13:46

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