title: Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease.
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.
  
  
  RESULTS
  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.
authors: Center of Excellence in Neuroscience of Université de Montréal and the Department of Medicine, Montreal, Quebec, Canada.
authors: Loubna
authors: L
authors: Jouan
authors: Simon L
authors: SL
authors: Girard
authors: Sylvia
authors: S
authors: Dobrzeniecka
authors: Amirthagowri
authors: A
authors: Ambalavanan
authors: Marie-Odile
authors: MO
authors: Krebs
authors: Ridha
authors: R
authors: Joober
authors: Julie
authors: J
authors: Gauthier
authors: Patrick A
authors: PA
authors: Dion
authors: Guy A
authors: GA
authors: Rouleau
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000483:Alleles; D004268:DNA-Binding Proteins / Q000235:genetics*; D018740:Genetic Heterogeneity; D020022:Genetic Predisposition to Disease; D016678:Genome; D020662:Guanine Nucleotide Exchange Factors; D006801:Humans; D026503:Low Density Lipoprotein Receptor-Related Protein-1 / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011569:Psychiatric Status Rating Scales; D012559:Schizophrenia / Q000453:epidemiology / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D028901:alpha Karyopherins / Q000235:genetics*
chemical_list: C493234:ALS2CL protein, human; D048868:Adaptor Proteins, Signal Transducing; D004268:DNA-Binding Proteins; D020662:Guanine Nucleotide Exchange Factors; C423142:KPNA1 protein, human; C475476:LRP1 protein, human; D026503:Low Density Lipoprotein Receptor-Related Protein-1; D014157:Transcription Factors; C488406:ZNF480 protein, human; D028901:alpha Karyopherins