2026-04-29T02:37:41Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/232072024-11-28T19:37:25Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16967

00925njm 22002777a 4500 dc Pol-Fuster, Josep author Cañellas, Francesca author Ruiz-Guerra, Laura author Medina-Dols, Aina author Bisbal-Carrio, Barbara author Asensio, Víctor José author Ortega-Vila, Bernat author Marzese, Diego M author Vidal, Carme author Santos, Carmen author Llado, Jeronia author Olmos, Gabriel author Heine-Suñer, Damián author Strauch, Konstantin author Flaquer, Antonia author Vives-Bauza, Cristofol author 2021-04-07 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 MACF1 gene, segregating with psychosis. Rare variants in the MACF1 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 (CNTN6 and CDH13, respectively). We hypothesize that the co-segregation of these duplications with the rare variant g.39914279 C > G of MACF1 gene precipitated with schizophrenia and schizoaffective disorder. Pol-Fuster J, Canellas F, Ruiz-Guerra L, Medina-Dols A, Bisbal-Carrio B, Asensio V, et al. Familial Psychosis Associated With a Missense Mutation at MACF1 Gene Combined With the Rare Duplications DUP3p26.3 and DUP16q23.3, Affecting the CNTN6 and CDH13 Genes. Front Genet. 2021 Apr 7;12:622886. https://hdl.handle.net/20.500.13003/19596 https://hdl.handle.net/20.500.12105/23207 33897758 10.3389/fgene.2021.622886 1664-8021 Frontiers in Genetics 2-s2.0-85104666162 641711500001 L634823213 Copy number variant Whole exome sequencing Schizophrenia CDH13 CNTN6 MACF1 Familial Psychosis Associated With a Missense Mutation at MACF1 Gene Combined With the Rare Duplications DUP3p26.3 and DUP16q23.3, Affecting the CNTN6 and CDH13 Genes