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;临床科室科研平台内分泌科儿科研究所首都医科大学附属北京儿童医院[2]Capital Med Univ, Beijing Tongren Hosp, Dept Dermatol, Beijing, Peoples R China;首都医科大学附属同仁医院[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;临床科室眼科首都医科大学附属北京儿童医院[5]Beijing Inst Brain Disorders, Ctr Alzheimers Dis, Beijing, Peoples R China
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.
基金:
National Natural Science Foundation of ChinaNational Natural Science Foundation of China [81472871, 91539204, 31230046]; Beijing Natural Science FoundationBeijing Natural Science Foundation [7132073, 5164032]; Ministry of Science and Technology of ChinaMinistry of Science and Technology, China [2013CB530600]
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
推荐引用方式(GB/T 7714):
Wei Aihua,Yuan Yefeng,Bai Dayong,et al.NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients[J].PIGMENT CELL & MELANOMA RESEARCH.2016,29(6):702-706.doi:10.1111/pcmr.12534.
APA:
Wei, Aihua,Yuan, Yefeng,Bai, Dayong,Ma, Jing,Hao, Zhenhua...&Li, Wei.(2016).NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.PIGMENT CELL & MELANOMA RESEARCH,29,(6)
MLA:
Wei, Aihua,et al."NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients".PIGMENT CELL & MELANOMA RESEARCH 29..6(2016):702-706