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Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients.

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收录情况： ◇ SCIE

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机构： [1]Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, China [2]Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, Beijing, China [3]Genetics and Birth Defects Control Center, National Center for Children's Health, Beijing, China [4]MOE Key Laboratory of Major Diseases in Children, Capital Medical University, Beijing, China [5]Department of Ophthalmology, National Center for Children's Health, Beijing Children’s Hospital, Capital Medical University, Beijing, China [6]Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China

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关键词： albinism genetic variant genotyping Hermansky–Pudlak syndrome pathogenicity

摘要：

Hermansky-Pudlak syndrome (HPS) is a rare recessive disorder characterized by oculocutaneous albinism or ocular albinism, bleeding diathesis, and other symptoms such as colitis and pulmonary fibrosis. Eleven causative genes have been identified for HPS-1-HPS-11 subtypes in humans. We have identified 16 newly reported patients including the first HPS-2 case in the Chinese population. In a total of 40 HPS patients, hypopigmentation was milder in HPS-3, HPS-5, and HPS-6 patients than in HPS-1 and HPS-4 patients. HPS-1 accounted for 47.5% (19 of 40) of HPS cases which is the most common subtype. Exons 11 and 19 were the hotspots of the HPS1 gene mutations. In total, 55 allelic variants were identified in HPS1-HPS6 gene, of which 17 variants were previously unreported. These results will be useful for the evaluation of the relationship between HPS genotypes and phenotypes, and for the precise intervention of HPS patients in the Chinese population. © 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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出版当年[2020]版：

大类 | 2 区医学

小类 | 2 区皮肤病学 3 区细胞生物学 3 区肿瘤学

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

JCR分区：

出版当年[2019]版：

Q1 DERMATOLOGY Q2 ONCOLOGY Q3 CELL BIOLOGY

最新[2023]版：

Q1 DERMATOLOGY Q2 CELL BIOLOGY Q2 ONCOLOGY

影响因子： 3.9 最新[2023版] 3.6 最新五年平均 3.683 出版当年[2019版] 4.797 出版当年五年平均 4.172 出版前一年[2018版] 4.693 出版后一年[2020版]

第一作者：

第一作者机构： [1]Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, China

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通讯作者：

通讯机构： [1]Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, China [2]Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, Beijing, China [3]Genetics and Birth Defects Control Center, National Center for Children's Health, Beijing, China [4]MOE Key Laboratory of Major Diseases in Children, Capital Medical University, Beijing, China [*1]Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China. [*2]Beijing Children’s Hospital, Capital Medical University, Beijing 100045, China.

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Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients.

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