• Behav Brain Funct · Jan 2013

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

    • Loubna Jouan, Simon L Girard, Sylvia Dobrzeniecka, Amirthagowri Ambalavanan, Marie-Odile Krebs, Ridha Joober, Julie Gauthier, Patrick A Dion, and Guy A Rouleau.
    • Center of Excellence in Neuroscience of Université de Montréal and the Department of Medicine, Montreal, Quebec, Canada.
    • Behav Brain Funct. 2013 Jan 1; 9: 9.

    BackgroundSchizophrenia 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.FindingsThis 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.ConclusionsThis 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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