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Eleven causative genes have been identified for HPS\u20101\u2013HPS\u201011 subtypes in humans. We have identified 16 newly reported patients including the first HPS\u20102 case in the Chinese population. In a total of 40 HPS patients, hypopigmentation was milder in HPS\u20103, HPS\u20105, and HPS\u20106 patients than in HPS\u20101 and HPS\u20104 patients. HPS\u20101 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 <jats:italic>HPS1<\/jats:italic> gene mutations. In total, 55 allelic variants were identified in <jats:italic>HPS1\u2013HPS6<\/jats:italic> 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.<\/jats:p>","DOI":"10.1111\/pcmr.12916","type":"journal-article","created":{"date-parts":[[2020,7,29]],"date-time":"2020-07-29T18:31:06Z","timestamp":1596047466000},"page":"111-121","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Genetic variants and mutational spectrum of Chinese Hermansky\u2013Pudlak syndrome patients"],"prefix":"10.1111","volume":"34","author":[{"given":"Teng","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Dermatology Beijing Tongren Hospital Capital Medical University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yefeng","family":"Yuan","sequence":"additional","affiliation":[{"name":"Beijing Key Laboratory for Genetics of Birth Defects Beijing Pediatric 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