Open Access Short paper

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

Loubna Jouan12, Simon L Girard123, Sylvia Dobrzeniecka12, Amirthagowri Ambalavanan27, Marie-Odile Krebs56, Ridha Joober7, Julie Gauthier12, Patrick A Dion123 and Guy A Rouleau1234*

Author Affiliations

1 Center of Excellence in Neuroscience of Université de Montréal and the Department of Medicine, Montreal, Quebec, Canada

2 Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), Montreal, Quebec, Canada

3 Université de Montréal, Faculty of Medicine, Department of Pathology and Cell Biology, H3C 3J7, Montreal, Quebec, Canada

4 Research Center, CHU Sainte-Justine, H3T 1C5, Montreal, Quebec, Canada

5 INSERM Laboratory of Pathophysiology of Psychiatric Diseases, Center of Psychiatry and Neurosciences, U894, Sainte-Anne Hospital, Paris, France

6 University Paris Descartes, Faculty of Medecine Paris Descartes, Centre d’évaluation et de recherche clinique, Sainte-Anne Hospital, Paris, France

7 Douglas Mental Health University Institute, Department of Psychiatry, McGill University, Pavilion Frank B. Common, Verdun, Montreal, Quebec, Canada

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Behavioral and Brain Functions 2013, 9:9  doi:10.1186/1744-9081-9-9

Published: 20 February 2013



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.


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.


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.

Schizophrenia; De novo mutation; LRP1; ALS2CL; KPNA1; ZNF480