The discovery research of the vulnerability factor, which is associated with schizophrenia, through familial clustering cases of both Hermansky-Pudlak syndrome and schizophrenia.

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We found the nonsense mutation in the HPS4 gene through sequencing analysis of a familial clustering cases in both Hermansky-Pudlak syndrome (HPS) and psychotic disorders. This mutation probably caused HPS in this family. An association study between the schizophrenics and the controls revealed that minor allele of an intronic single nucleotide polymorphism (SNP) was over-represented in the control samples. And this minor allele was associated with higher working memory. Taken together, genotypic diversity of the HPS4 gene may contribute some pathological aspects of schizophrenia.