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

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机构: [1]Capital Med Univ, Beijing Pediat Res Inst, MOE Key Lab Major Dis Children, Beijing Childrens Hosp,Ctr Med Genet, Beijing, Peoples R China; [2]Capital Med Univ, Beijing Tongren Hosp, Dept Dermatol, Beijing, Peoples R China; [3]Chinese Acad Sci, Inst Genet & Dev Biol, State Key Lab Mol Dev Biol, Beijing, Peoples R China; [4]Capital Med Univ, Beijing Childrens Hosp, Dept Ophthalmol, Beijing, Peoples R China; [5]Beijing Inst Brain Disorders, Ctr Alzheimers Dis, Beijing, Peoples R China
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关键词: Hermansky-Pudlaksyndrome previouslyunreported alleles lysosome-related organelles next-generationsequencing albinism

摘要:
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.

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出版当年[2015]版:
大类 | 2 区 医学
小类 | 1 区 皮肤病学 2 区 肿瘤学 3 区 细胞生物学
最新[2023]版:
大类 | 3 区 医学
小类 | 2 区 皮肤病学 3 区 细胞生物学 4 区 肿瘤学
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出版当年[2014]版:
Q1 ONCOLOGY Q1 DERMATOLOGY Q2 CELL BIOLOGY
最新[2023]版:
Q1 DERMATOLOGY Q2 CELL BIOLOGY Q2 ONCOLOGY

影响因子: 最新[2023版] 最新五年平均 出版当年[2014版] 出版当年五年平均 出版前一年[2013版] 出版后一年[2015版]

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第一作者机构: [2]Capital Med Univ, Beijing Tongren Hosp, Dept Dermatol, Beijing, Peoples R China;
通讯作者:
通讯机构: [1]Capital Med Univ, Beijing Pediat Res Inst, MOE Key Lab Major Dis Children, Beijing Childrens Hosp,Ctr Med Genet, Beijing, Peoples R China; [2]Capital Med Univ, Beijing Tongren Hosp, Dept Dermatol, Beijing, Peoples R China; [5]Beijing Inst Brain Disorders, Ctr Alzheimers Dis, Beijing, Peoples R China
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