对色素减退进行100个基因的二代测序(NGS)确定中国Hermansky–Pudlak综合征患者的突变特征

NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky–Pudlak syndrome patients
2016-12-22 13:48发表评论
作者:Wei, A. , Yuan, Y., Bai, D., Ma, J., Hao, Z., Zhang, Y., Yu, J., Zhou, Z., Yang, L., Yang, X., Li, L., Li, W.
机构: 儿科重大疾病研究教育部重点实验室,首都儿科研究所,首都医科大学附属北京儿童医院医学遗传学中心
期刊: Pigment Cell Melanoma Res2016年11月6期29卷

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. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd

通讯机构:Center for Medical Genetics, Beijing Childrens Hospital, Capital Medical University, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Beijing, China
学科代码:基础医学 皮肤病学   关键词:对色素减退 Hermansky–Pudlak综合征 ,中国作者重要发表 爱思唯尔医学网, Elseviermed
来源: Scopus
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