机构：[1]Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, China首都医科大学附属北京同仁医院临床科室皮肤性病科[2]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[3]Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Genetics and Birth Defects Control Center, National Center for Children's Health, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, Beijing, China首都医科大学附属北京儿童医院[4]Department of Ophthalmology, Beijing Children’s Hospital, National Center for Children's Health, Capital Medical University, Beijing, China首都医科大学附属北京儿童医院[5]Department of Pathology, Beijing Children’s Hospital, National Center for Children's Health, Capital Medical University, Beijing, China首都医科大学附属北京儿童医院[6]Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China
Hermansky-Pudlak syndrome 9 (HPS-9) is a recessive disorder caused by BLOC1S6 gene. There are only four variants identified from four HPS-9 patients so far. Here, we reported the first HPS-9 patient in a Chinese population. He had brownish-yellow hair, white skin, brown irises with visual acuity, photophobia and nystagmus. Two novel variants, c.148G>T (p.Glu50*) and c.351dupT (p.Ile118Tyrfs*10) in BLOC1S6 gene were identified by whole-exome sequencing (WES). Absence of platelet dense granules was found by whole-mount platelet electron microscopy and Western blotting assays showed the destabilized BLOC-1 subunits. He had recurrent bruising and was found to have abnormal brain waves by electroencephalogram, but did not develop thrombopenia, immunodeficiency or other symptoms reported in other HPS-9 patients. This is the first case report of BLOC-1 mutation in a Chinese population and our findings expand the mutational spectrum of HPS genes.
基金：
Ministry of Science and Technology of ChinaMinistry of Science and Technology, China [2016YFC1000306]; National Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [31830054, 81472871]
第一作者机构：[1]Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, China[2]Shunyi Women and Children’s Hospital of Beijing Children’s Hospital, 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]Shunyi Women and Children’s Hospital of Beijing Children’s Hospital, Beijing, China[3]Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Genetics and Birth Defects Control Center, National Center for Children's Health, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, 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.
推荐引用方式(GB/T 7714)：
Liu Teng,Yuan Yefeng,Bai Dayong,et al.The first Hermansky-Pudlak syndrome type 9 patient with two novel variants in Chinese population[J].JOURNAL OF DERMATOLOGY.2021,48(5):676-680.doi:10.1111/1346-8138.15762.
APA：
Liu, Teng,Yuan, Yefeng,Bai, Dayong,Yao, Xingfeng,Zhang, Tianjiao...&Wei, Aihua.(2021).The first Hermansky-Pudlak syndrome type 9 patient with two novel variants in Chinese population.JOURNAL OF DERMATOLOGY,48,(5)
MLA：
Liu, Teng,et al."The first Hermansky-Pudlak syndrome type 9 patient with two novel variants in Chinese population".JOURNAL OF DERMATOLOGY 48..5(2021):676-680
