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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adaptor Proteins, Signal Transducing / genetics*
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Alleles
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DNA-Binding Proteins / genetics*
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Genetic Heterogeneity
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Genetic Predisposition to Disease
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Genome
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Guanine Nucleotide Exchange Factors
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Humans
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Low Density Lipoprotein Receptor-Related Protein-1 / genetics*
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Mutation / genetics
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Polymorphism, Single Nucleotide
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Psychiatric Status Rating Scales
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Schizophrenia / epidemiology
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Schizophrenia / genetics*
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Transcription Factors / genetics*
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alpha Karyopherins / genetics*
Substances
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ALS2CL protein, human
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Adaptor Proteins, Signal Transducing
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DNA-Binding Proteins
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Guanine Nucleotide Exchange Factors
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KPNA1 protein, human
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LRP1 protein, human
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Low Density Lipoprotein Receptor-Related Protein-1
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Transcription Factors
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ZNF480 protein, human
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alpha Karyopherins