Article
A Missense Variant in CASKIN1's Proline-Rich Region Segregates with Psychosis in a Three-Generation Family.
Genes - 9 Jan 2023
Wahbeh Marah H, Peng Xi, Bacharaki Sofia, Hatzimanolis Alexandros, Dimitrakopoulos Stefanos, Wohler Elizabeth, Yang Xue, Yovo Christian, Maher Brady J, Sobreira Nara, Stefanis Nikos C, Avramopoulos Dimitrios
Abstract excerpt
The polygenic nature of schizophrenia (SCZ) implicates many variants in disease development. Rare variants of high penetrance have been shown to contribute to the disease prevalence. Whole-exome sequencing of a large three-generation family with SCZ and bipolar disorder identified a single segregating novel, rare, non-synonymous variant in the gene CASKIN1. The variant D1204N is absent from all databases, and...
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