一个患希佩尔-林道病的中国家族中VHL基因的一种新突变。
A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease.
作者信息
Wu Xing, Chen Lanlan, Zhang Yixin, Xie Hainan, Xue Meirong, Wang Yi, Huang Houbin
机构信息
Department of Ophthalmology, Chinese PLA General Hospital, Beijing, 100853, China.
Department of Ophthalmology, Hainan Hospital of Chinese PLA General Hospital, Sanya, 572013, Hainan Province, China.
出版信息
BMC Med Genet. 2018 Nov 26;19(1):204. doi: 10.1186/s12881-018-0716-4.
BACKGROUND
Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with VHL disease.
METHODS
Genomic DNA was extracted from peripheral blood from a Chinese family with VHL. A predicted pathogenic variant was identified by targeted exome capture technology and next-generation sequencing.
RESULTS
A novel heterozygous mutation (c.349 T > A, p.W117R) was detected in affected family members. No mutation was detected in unaffected family members or in the 150 normal controls. The mutation segregated with the disease phenotype throughout three generations. Histopathological examination revealed the characteristics of hemangioblastoma.
CONCLUSIONS
A novel W117R was detected in the VHL gene that caused retinal hemangioblastomas in affected members of a Chinese family.
背景
希佩尔-林道（VHL）病是一种常染色体显性遗传性癌症综合征，VHL被鉴定为一种肿瘤抑制基因。本研究的主要目的是在一个患VHL病的中国家系中鉴定致病突变。
方法
从一个患VHL病的中国家系的外周血中提取基因组DNA。通过靶向外显子捕获技术和下一代测序鉴定出一个预测的致病变异。
结果
在患病家系成员中检测到一个新的杂合突变（c.349 T>A，p.W117R）。在未患病家系成员或150名正常对照中未检测到突变。该突变在三代人中均与疾病表型共分离。组织病理学检查显示为成血管细胞瘤的特征。
结论
在VHL基因中检测到一个新的W117R突变，该突变导致一个中国家系的患病成员发生视网膜成血管细胞瘤。
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