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Open Access 01-12-2013 | Short paper

Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease

Authors: Loubna Jouan, Simon L Girard, Sylvia Dobrzeniecka, Amirthagowri Ambalavanan, Marie-Odile Krebs, Ridha Joober, Julie Gauthier, Patrick A Dion, Guy A Rouleau

Published in: Behavioral and Brain Functions | Issue 1/2013

Abstract

Background

Schizophrenia is a severe psychiatric disease characterized by a high heritability and a complex genetic architecture. Recent reports based on exome sequencing analyses have highlighted a significant increase of potentially deleterious de novo mutations in different genes in individuals with schizophrenia.

Findings

This report presents the mutation screening results of four candidate genes for which such de novo mutations were previously reported (LRP1, KPNA1, ALS2CL and ZNF480). We have not identified any excess of rare variants in the additional SCZ cases we have screened.

Conclusions

This supports the notion that de novo mutations in these four genes are extremely rare in schizophrenia and further highlights the high degree of genetic heterogeneity of this disease.

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Title: Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease
Authors: Loubna Jouan
Simon L Girard
Sylvia Dobrzeniecka
Amirthagowri Ambalavanan
Marie-Odile Krebs
Ridha Joober
Julie Gauthier
Patrick A Dion
Guy A Rouleau
Publication date: 01-12-2013
Publisher: BioMed Central
Published in: Behavioral and Brain Functions / Issue 1/2013
Electronic ISSN: 1744-9081
DOI: https://doi.org/10.1186/1744-9081-9-9

At a glance: The STEP trials

Springer Medicine

Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease

Abstract

Background

Findings

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Findings

Conclusions

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