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HPS is categorized into eleven types based on eleven causative genes, and disease severity varies among different types. By whole\u2010exome sequencing performed on a family trio and Sanger sequencing of candidate variants, we identified a novel homozygous variant (NM_201280.3: c.181delC, p.Val61*) in <jats:italic>BLOC1S5<\/jats:italic> in the patient who presents OCA and mild bleeding diathesis, and his healthy parents are heterozygous carriers. The variant can be considered pathogenic based on the guideline American College of Medical Genetics and Genomics, and the patient is proposed to be affected with HPS\u201011. In this study, we also explored <jats:italic>bloc1s5<\/jats:italic> in zebrafish. <jats:italic>bloc1s5<\/jats:italic> mRNA can be detected during early development of zebrafish. <jats:italic>bloc1s5<\/jats:italic> knockdown zebrafish present with retinal hypopigmentation, thrombocytes loss and pericardial edema, and dll4\/notch1 signaling and vascular\u00a0integrity signaling are down\u2010regulated at mRNA level in <jats:italic>bloc1s5<\/jats:italic> morphants. The data from the first HPS\u201011 patient in Chinese population expand phenotypic and genotypic spectrum of HPS\u201011. Disruption of <jats:italic>bloc1s5<\/jats:italic> in zebrafish recapitulates HPS\u201011\u2010like phenotypes, and the potential signaling pathways associated with bloc1s5 are proposed. Altogether, this study may facilitate genetic counseling of HPS and investigation about <jats:italic>BLOC1S5<\/jats:italic>.<\/jats:p>","DOI":"10.1111\/pcmr.12995","type":"journal-article","created":{"date-parts":[[2021,5,31]],"date-time":"2021-05-31T17:25:19Z","timestamp":1622481919000},"page":"1112-1119","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["A novel <i>BLOC1S5<\/i>\u2010related HPS\u201011 patient and zebrafish with <i>bloc1s5<\/i> disruption"],"prefix":"10.1111","volume":"34","author":[{"given":"Zilin","family":"Zhong","sequence":"first","affiliation":[{"name":"Birth defect group, Translation Research Institute of Brain and Brain\u2010like Intelligence Shanghai Fourth People's Hospital School of Medicine Tongji University Shanghai China"},{"name":"Department of Pediatrics, Shanghai Fourth People's Hospital, School of Medicine Tongji University Shanghai China"},{"name":"Department of Regenerative Medicine, School of Medicine Tongji University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuanbin","family":"Wu","sequence":"additional","affiliation":[{"name":"Shanghai Model Organisms Center, Inc Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Regenerative Medicine, School of Medicine Tongji University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6611-6079","authenticated-orcid":false,"given":"Jianjun","family":"Chen","sequence":"additional","affiliation":[{"name":"Birth defect group, Translation Research Institute of Brain and Brain\u2010like Intelligence Shanghai Fourth People's Hospital School of Medicine Tongji University Shanghai China"},{"name":"Department of Pediatrics, Shanghai Fourth People's Hospital, School of Medicine Tongji University Shanghai China"},{"name":"Department of Medical Genetics, School of Medicine Tongji University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,6,29]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/tra.12646"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12483000"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.117.300621"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.5114\/pdia.2013.33376"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.24550"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2009.01.004"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-07-607903"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.004184"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V14.2.162.162"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23968"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1161\/ATVBAHA.120.314245"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-01-0179"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1160\/TH16-07-0564"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0867-5"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2015.332"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M402513200"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2019.236901"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.6.697"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.18108"}],"container-title":["Pigment Cell &amp; 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