机构：[1]Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, China首都医科大学附属同仁医院[2]Beijing Key Laboratory for Genetics of Birth Defects[3] MOE Key Laboratory of Major Diseases in Children[4] Center for Medical Genetics, Beijing Pediatric Research Institute科研平台职能科室出生缺陷遗传学研究室临床流行病与循证医学中心儿科研究所首都医科大学附属北京儿童医院[5] Beijing Children’s Hospital, Capital Medical University首都医科大学附属北京儿童医院[6] National Center for Children's Health, Beijing, China[3]Department of Ophthalmology, Beijing Children’s Hospital, Capital Medical University, Beijing, China临床科室眼科首都医科大学附属北京儿童医院[4]Shunyi Women and Children’s Hospital of Beijing Children’s Hospital, Beijing, China首都医科大学附属北京儿童医院[5]State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China
Hermansky-Pudlak syndrome (HPS) is a rare recessive disorder characterized by oculocutaneous albinism (OCA) or ocular albinism (OA), bleeding tendency, and other symptoms due to multiple defects in tissue-specific lysosome-related organelles. Ten HPS subtypes have been characterized with mutations in HPS1 to HPS10, which encode the subunits of BLOC-1, -2, -3, and AP-3. Using next-generation sequencing (NGS), we have screened 100 hypopigmentation genes in OCA or OA patients and identified four HPS-1, one HPS-3, one HPS-4, one HPS-5, and three HPS-6. The HPS-4 case is the first report in the Chinese population. Among these 20 mutational alleles, 16 were previously unreported alleles (6 in HPS1, 1 in HPS3, 2 in HPS4, 2 in HPS5, and 5 in HPS6). BLOC-2 and BLOC-3 were destabilized due to the mutation of these HPS genes which are so far the only reported causative genes in Chinese HPS patients, in which HPS-1 and HPS-6 are the most common subtypes. The mutational spectrum of Chinese HPS is population specific.
基金：
National Natural Science Foundation of ChinaNational Natural Science Foundation of China [81472871, 91539204, 31830054]; Ministry of Science and Technology of ChinaMinistry of Science and Technology, China [2016YFC1000306]
第一作者机构：[1]Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, China[*2]Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
共同第一作者：
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[4] Center for Medical Genetics, Beijing Pediatric Research Institute[4]Shunyi Women and Children’s Hospital of Beijing Children’s Hospital, Beijing, China[*1]Center for Medical Genetics, Beijing Children’s Hospital, Capital Medical University, Beijing, China.[*2]Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
推荐引用方式(GB/T 7714)：
Wei Aihua,Yuan Yefeng,Qi Zhan,et al.Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome[J].PIGMENT CELL & MELANOMA RESEARCH.2019,32(3):373-380.doi:10.1111/pcmr.12748.
APA：
Wei, Aihua,Yuan, Yefeng,Qi, Zhan,Liu, Teng,Bai, Dayong...&Li, Wei.(2019).Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome.PIGMENT CELL & MELANOMA RESEARCH,32,(3)
MLA：
Wei, Aihua,et al."Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome".PIGMENT CELL & MELANOMA RESEARCH 32..3(2019):373-380
