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Pol-Fuster, J.* ; Cañellas, F.* ; Ruiz-Guerra, L.* ; Medina-Dols, A.* ; Bisbal-Carrió, B.* ; Asensio, V.* ; Ortega-Vila, B.* ; Marzese, D.* ; Vidal, C.* ; Santos, C.* ; Lladó, J.* ; Olmos, G.* ; Heine-Suñer, D.* ; Strauch, K. ; Flaquer, A. ; Vives-Bauzà, C.*

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. 12:622886 (2021)
Publ. Version/Full Text Research data DOI
Open Access Gold
Creative Commons Lizenzvertrag
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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Publication type Article: Journal article
Document type Scientific Article
Keywords Cdh13 ; Cntn6 ; Macf1 ; Copy Number Variant ; Schizophrenia ; Whole Exome Sequencing
ISSN (print) / ISBN 1664-8021
e-ISSN 1664-8021
Quellenangaben Volume: 12, Issue: , Pages: , Article Number: 622886 Supplement: ,
Publisher Frontiers
Publishing Place Avenue Du Tribunal Federal 34, Lausanne, Ch-1015, Switzerland
Reviewing status Peer reviewed
Grants ERDF
European Union
FPI fellowship - General Direction of Innovation and Research, Ministry of Innovation, Research, and Tourism, Balearic Government
FPU fellowship - Ministry of Education, Culture, and Sport (Spain)
European Union ERDF (European Regional Development Fund)
Carlos III Institute of Health (ISCIII), Ministry of Economy and Competitiveness (Spain)