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

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

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 o...

Full description

Bibliographic Details
Main Authors: Josep Pol-Fuster, Francesca Cañellas, Laura Ruiz-Guerra, Aina Medina-Dols, Bàrbara Bisbal-Carrió, Víctor Asensio, Bernat Ortega-Vila, Diego Marzese, Carme Vidal, Carmen Santos, Jerònia Lladó, Gabriel Olmos, Damià Heine-Suñer, Konstantin Strauch, Antònia Flaquer, Cristòfol Vives-Bauzà
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-04-01
Series:Frontiers in Genetics
Subjects:
copy number variant
whole exome sequencing
schizophrenia
CDH13
CNTN6
MACF1
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.622886/full

Similar Items

Similar Items