NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients

Summary Hermansky–Pudlak syndrome (HPS) is a rare recessive disorder characterized by hypopigmentation, bleeding diathesis, and other symptoms due to multiple defects in lysosome‐related organelles. Ten HPS subtypes have been identified with mutations in HPS1 to HPS10. Only four patients with HPS‐1...

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Veröffentlicht in:Pigment cell and melanoma research 2016-11, Vol.29 (6), p.702-706
Hauptverfasser: Wei, Aihua, Yuan, Yefeng, Bai, Dayong, Ma, Jing, Hao, Zhenhua, Zhang, Yingzi, Yu, Jiaying, Zhou, Zhiyong, Yang, Lin, Yang, Xiumin, Li, Li, Li, Wei
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container_issue 6
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container_title Pigment cell and melanoma research
container_volume 29
creator Wei, Aihua
Yuan, Yefeng
Bai, Dayong
Ma, Jing
Hao, Zhenhua
Zhang, Yingzi
Yu, Jiaying
Zhou, Zhiyong
Yang, Lin
Yang, Xiumin
Li, Li
Li, Wei
description Summary Hermansky–Pudlak syndrome (HPS) is a rare recessive disorder characterized by hypopigmentation, bleeding diathesis, and other symptoms due to multiple defects in lysosome‐related organelles. Ten HPS subtypes have been identified with mutations in HPS1 to HPS10. Only four patients with HPS‐1 have been reported in Chinese population. Using next‐generation sequencing (NGS), we have screened 100 hypopigmentation genes and identified four HPS‐1, two HPS‐3, one HPS‐5, and three HPS‐6 in Chinese HPS 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 HPS1, three in HPS3, two in HPS5, five in HPS6). Our results demonstrate the feasibility and utility of NGS‐based panel diagnostics for HPS. Genotyping of HPS subtypes is a prerequisite for intervention of subtype‐specific symptoms.
doi_str_mv 10.1111/pcmr.12534
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Ten HPS subtypes have been identified with mutations in HPS1 to HPS10. Only four patients with HPS‐1 have been reported in Chinese population. Using next‐generation sequencing (NGS), we have screened 100 hypopigmentation genes and identified four HPS‐1, two HPS‐3, one HPS‐5, and three HPS‐6 in Chinese HPS 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 HPS1, three in HPS3, two in HPS5, five in HPS6). Our results demonstrate the feasibility and utility of NGS‐based panel diagnostics for HPS. Genotyping of HPS subtypes is a prerequisite for intervention of subtype‐specific symptoms.</description><identifier>ISSN: 1755-1471</identifier><identifier>EISSN: 1755-148X</identifier><identifier>DOI: 10.1111/pcmr.12534</identifier><identifier>PMID: 27593200</identifier><language>eng</language><publisher>England: Blackwell Publishing Ltd</publisher><subject>Adaptor Protein Complex 3 - genetics ; Adaptor Protein Complex beta Subunits - genetics ; Adult ; albinism ; Biomarkers - analysis ; Carrier Proteins - genetics ; Child ; Child, Preschool ; Female ; Genotype ; Hermanski-Pudlak Syndrome - diagnosis ; Hermanski-Pudlak Syndrome - genetics ; Hermansky-Pudlak syndrome ; High-Throughput Nucleotide Sequencing - methods ; Humans ; Hypopigmentation - genetics ; Infant ; Intracellular Signaling Peptides and Proteins - genetics ; lysosome-related organelles ; Male ; Membrane Proteins - genetics ; Mutation ; next-generation sequencing ; Pedigree ; previouslyunreported alleles</subject><ispartof>Pigment cell and melanoma research, 2016-11, Vol.29 (6), p.702-706</ispartof><rights>2016 John Wiley &amp; Sons A/S. 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Published by John Wiley &amp; Sons Ltd.</rights><rights>Copyright © 2016 John Wiley &amp; Sons A/S</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3914-1637e020376da168191c408c69cdacbef644134a9b2dc02d6797bd121074e9e43</citedby><cites>FETCH-LOGICAL-c3914-1637e020376da168191c408c69cdacbef644134a9b2dc02d6797bd121074e9e43</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fpcmr.12534$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fpcmr.12534$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27593200$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Wei, Aihua</creatorcontrib><creatorcontrib>Yuan, Yefeng</creatorcontrib><creatorcontrib>Bai, Dayong</creatorcontrib><creatorcontrib>Ma, Jing</creatorcontrib><creatorcontrib>Hao, Zhenhua</creatorcontrib><creatorcontrib>Zhang, Yingzi</creatorcontrib><creatorcontrib>Yu, Jiaying</creatorcontrib><creatorcontrib>Zhou, Zhiyong</creatorcontrib><creatorcontrib>Yang, Lin</creatorcontrib><creatorcontrib>Yang, Xiumin</creatorcontrib><creatorcontrib>Li, Li</creatorcontrib><creatorcontrib>Li, Wei</creatorcontrib><title>NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients</title><title>Pigment cell and melanoma research</title><addtitle>Pigment Cell Melanoma Res</addtitle><description>Summary Hermansky–Pudlak syndrome (HPS) is a rare recessive disorder characterized by hypopigmentation, bleeding diathesis, and other symptoms due to multiple defects in lysosome‐related organelles. 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Yuan, Yefeng ; Bai, Dayong ; Ma, Jing ; Hao, Zhenhua ; Zhang, Yingzi ; Yu, Jiaying ; Zhou, Zhiyong ; Yang, Lin ; Yang, Xiumin ; Li, Li ; Li, Wei</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3914-1637e020376da168191c408c69cdacbef644134a9b2dc02d6797bd121074e9e43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Adaptor Protein Complex 3 - genetics</topic><topic>Adaptor Protein Complex beta Subunits - genetics</topic><topic>Adult</topic><topic>albinism</topic><topic>Biomarkers - analysis</topic><topic>Carrier Proteins - genetics</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Female</topic><topic>Genotype</topic><topic>Hermanski-Pudlak Syndrome - diagnosis</topic><topic>Hermanski-Pudlak Syndrome - genetics</topic><topic>Hermansky-Pudlak syndrome</topic><topic>High-Throughput Nucleotide Sequencing - methods</topic><topic>Humans</topic><topic>Hypopigmentation - genetics</topic><topic>Infant</topic><topic>Intracellular Signaling Peptides and Proteins - genetics</topic><topic>lysosome-related organelles</topic><topic>Male</topic><topic>Membrane Proteins - genetics</topic><topic>Mutation</topic><topic>next-generation sequencing</topic><topic>Pedigree</topic><topic>previouslyunreported alleles</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Wei, Aihua</creatorcontrib><creatorcontrib>Yuan, Yefeng</creatorcontrib><creatorcontrib>Bai, Dayong</creatorcontrib><creatorcontrib>Ma, Jing</creatorcontrib><creatorcontrib>Hao, Zhenhua</creatorcontrib><creatorcontrib>Zhang, Yingzi</creatorcontrib><creatorcontrib>Yu, Jiaying</creatorcontrib><creatorcontrib>Zhou, Zhiyong</creatorcontrib><creatorcontrib>Yang, Lin</creatorcontrib><creatorcontrib>Yang, Xiumin</creatorcontrib><creatorcontrib>Li, Li</creatorcontrib><creatorcontrib>Li, Wei</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Biotechnology Research Abstracts</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health &amp; 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Ten HPS subtypes have been identified with mutations in HPS1 to HPS10. Only four patients with HPS‐1 have been reported in Chinese population. Using next‐generation sequencing (NGS), we have screened 100 hypopigmentation genes and identified four HPS‐1, two HPS‐3, one HPS‐5, and three HPS‐6 in Chinese HPS 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 HPS1, three in HPS3, two in HPS5, five in HPS6). Our results demonstrate the feasibility and utility of NGS‐based panel diagnostics for HPS. Genotyping of HPS subtypes is a prerequisite for intervention of subtype‐specific symptoms.</abstract><cop>England</cop><pub>Blackwell Publishing Ltd</pub><pmid>27593200</pmid><doi>10.1111/pcmr.12534</doi><tpages>5</tpages></addata></record>
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subjects Adaptor Protein Complex 3 - genetics
Adaptor Protein Complex beta Subunits - genetics
Adult
albinism
Biomarkers - analysis
Carrier Proteins - genetics
Child
Child, Preschool
Female
Genotype
Hermanski-Pudlak Syndrome - diagnosis
Hermanski-Pudlak Syndrome - genetics
Hermansky-Pudlak syndrome
High-Throughput Nucleotide Sequencing - methods
Humans
Hypopigmentation - genetics
Infant
Intracellular Signaling Peptides and Proteins - genetics
lysosome-related organelles
Male
Membrane Proteins - genetics
Mutation
next-generation sequencing
Pedigree
previouslyunreported alleles
title NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients
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