Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients.

Hermansky-Pudlak syndrome (HPS) is a rare recessive disorder characterized by oculocutaneous albinism or ocular albinism, bleeding diathesis, and other symptoms such as colitis and pulmonary fibrosis. Eleven causative genes have been identified for HPS-1-HPS-11 subtypes in humans. We have identified 16 newly reported patients including the first HPS-2 case in the Chinese population. In a total of 40 HPS patients, hypopigmentation was milder in HPS-3, HPS-5, and HPS-6 patients than in HPS-1 and HPS-4 patients. HPS-1 accounted for 47.5% (19 of 40) of HPS cases which is the most common subtype. Exons 11 and 19 were the hotspots of the HPS1 gene mutations. In total, 55 allelic variants were identified in HPS1-HPS6 gene, of which 17 variants were previously unreported. These results will be useful for the evaluation of the relationship between HPS genotypes and phenotypes, and for the precise intervention of HPS patients in the Chinese population.