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Ten <jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content> subtypes have been identified with mutations in <jats:italic><jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content>1<\/jats:italic> to <jats:italic><jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content>10<\/jats:italic>. Only four patients with <jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content>\u20101 have been reported in Chinese population. Using next\u2010generation sequencing (<jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>), we have screened 100 hypopigmentation genes and identified four <jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content>\u20101, two <jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content>\u20103, one <jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content>\u20105, and three <jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content>\u20106 in Chinese <jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content> patients with typical ocular or oculocutaneous albinism and the absence of platelet dense granules together with other variable phenotypes. All these patients except one homozygote were compound heterozygotes. Among these mutations, 14 were previously unreported alleles (four in <jats:italic><jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content>1,<\/jats:italic> three in <jats:italic><jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content>3,<\/jats:italic> two in <jats:italic><jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content>5,<\/jats:italic> five in <jats:italic><jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content>6<\/jats:italic>). Our results demonstrate the feasibility and utility of <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>\u2010based panel diagnostics for <jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content>. Genotyping of <jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content> subtypes is a prerequisite for intervention of subtype\u2010specific symptoms.<\/jats:p>","DOI":"10.1111\/pcmr.12534","type":"journal-article","created":{"date-parts":[[2016,9,5]],"date-time":"2016-09-05T03:59:32Z","timestamp":1473047972000},"page":"702-706","source":"Crossref","is-referenced-by-count":33,"title":["<scp>NGS<\/scp>\u2010based 100\u2010gene panel of hypopigmentation identifies mutations in Chinese Hermansky\u2013Pudlak syndrome patients"],"prefix":"10.1111","volume":"29","author":[{"given":"Aihua","family":"Wei","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":"State Key Laboratory of Molecular Developmental Biology Institute of Genetics &amp; Developmental Biology Chinese Academy of Sciences Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dayong","family":"Bai","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Beijing Childrens Hospital Capital Medical University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Ma","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Beijing Childrens Hospital Capital Medical University, Beijing Pediatric Research Institute MOE Key Laboratory of Major Diseases in Children Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenhua","family":"Hao","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Beijing Childrens Hospital Capital Medical University, Beijing Pediatric Research Institute MOE Key Laboratory of Major Diseases in Children Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingzi","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Beijing Tongren Hospital Capital Medical University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiaying","family":"Yu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Molecular Developmental Biology Institute of Genetics &amp; 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