在中国一个患有冯·希佩尔-林道（VHL）综合征的大家庭中鉴定VHL基因的一种新型重复突变。

Identification of a novel duplication mutation in the VHL gene in a large Chinese family with Von Hippel-Lindau (VHL) syndrome.

作者信息

Cao L H, Kuang B H, Chen C, Hu C, Sun Z, Chen H, Wang S S, Luo Y

机构信息

Key Laboratory of Medical Cell Biology, The Research Center for Medical Genomics, Ministry of Education, China Medical University, Shenyang, Liaoning, China.

Department of Genetic Research, Medical College of Nanchang University, Nanchang, Jiangxi, China

出版信息

Genet Mol Res. 2014 Dec 4;13(4):10177-83. doi: 10.4238/2014.December.4.12.

DOI:10.4238/2014.December.4.12

PMID:25501229

Abstract

Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina, renal cysts, clear cell renal cell carcinoma, and pheochromocytoma. VHL is caused by mutations in the VHL tumor suppressor gene. We attempted to detect mutation in the VHL gene in a 5-generation Chinese family with VHL. We identified a novel small duplication that altered the reading frame downstream and created a premature TGA stop signal, resulting in severely truncated pVHL30 (p.Gly114Serfs50) and pVHL19 (p.Gly61Serfs50). This change was predicted to be an elongin-binding domain deletion.

摘要

冯·希佩尔-林道（VHL）综合征的特征为脑、脊髓和视网膜的血管母细胞瘤、肾囊肿、透明细胞肾细胞癌和嗜铬细胞瘤。VHL由VHL肿瘤抑制基因突变引起。我们试图在一个患VHL的五代中国家系中检测VHL基因的突变。我们鉴定出一个新的小重复，该重复改变了下游的阅读框并产生了一个过早的TGA终止信号，导致pVHL30（p.Gly114Serfs50）和pVHL19（p.Gly61Serfs50）严重截短。预计这种变化会导致延伸蛋白结合结构域缺失。