| 1 | Behav Brain Funct 2013 -1 9: 9 |
|---|---|
| PMID | 23425335 |
| Title | Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease. |
| Abstract | schizophreniais 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 withschizophrenia. This report presents the mutation screening results of four candidate genes for which such de novo mutations were previously reported (LRP1,KPNA1, ALS2CL ZNF480)。我们没有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 inschizophreniaand further highlights the high degree of genetic heterogeneity of this disease. |
| SCZ Keywords | schizophrenia |