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Familial Psychosis Associated With a Missense Mutation at Gene Combined With the Rare Duplications DUP3p26.3 and DUP16q23.3, Affecting the and Genes. | LitMetric

AI Article Synopsis

Article Abstract

Psychosis is a highly heritable and heterogeneous psychiatric condition. Its genetic architecture is thought to be the result of the joint effect of common and rare variants. Families with high prevalence are an interesting approach to shed light on the rare variant's contribution without the need of collecting large cohorts. To unravel the genomic architecture of a family enriched for psychosis, with four affected individuals, we applied a system genomic approach based on karyotyping, genotyping by whole-exome sequencing to search for rare single nucleotide variants (SNVs) and SNP array to search for copy-number variants (CNVs). We identified a rare non-synonymous variant, g.39914279 C > G, in the gene, segregating with psychosis. Rare variants in the gene have been previously detected in SCZ patients. Besides, two rare CNVs, DUP3p26.3 and DUP16q23.3, were also identified in the family affecting relevant genes ( and , respectively). We hypothesize that the co-segregation of these duplications with the rare variant g.39914279 C > G of gene precipitated with schizophrenia and schizoaffective disorder.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8058362PMC
http://dx.doi.org/10.3389/fgene.2021.622886DOI Listing

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