期刊
FRONTIERS IN GENETICS
卷 12, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fgene.2021.622886
关键词
copy number variant; whole exome sequencing; schizophrenia; CDH13; CNTN6; MACF1
资金
- Carlos III Institute of Health (ISCIII), Ministry of Economy and Competitiveness (Spain) [PI15/00809, PI18/00608]
- European Union ERDF (European Regional Development Fund)
- FPU fellowship - Ministry of Education, Culture, and Sport (Spain) [FPU/2014-03876]
- FPI fellowship - General Direction of Innovation and Research, Ministry of Innovation, Research, and Tourism, Balearic Government
- ISCIII [CP17/00188]
- European Union
- ERDF
By analyzing the genomic architecture of a family enriched for psychosis, rare variants in the MACF1 gene associated with the disorder were identified, along with rare copy-number variants affecting relevant genes. These findings suggest a potential role of rare variants in contributing to schizophrenia and schizoaffective disorder, shedding new light on the genetic mechanisms of these conditions.
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.
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