中文摘要：

VHL综合征（von Hippel-Lindau syndrome,VHL;MIM 193300）是一种常染色体显性遗传的多系统肿瘤综合征,最常见临床表现是视网膜或中枢神经系统（central nervous system,CNS）血管母细胞瘤.CNS血管母细胞瘤和肾细胞癌（renal cell carcinoma,RCC）的并发症是VHL患者最主要的死因.VHL综合征主要因VHL基因（the vonHipple-Lindau gene,VHL）突变所致,细胞周期素D1基因（the cyclin D1 gene,CCND1）突变和蛋白异常也可能参与其发生.目前已建立了多个VHL基因缺陷动物模型.在此就VHL综合征的遗传学研究进展作一概述.

英文摘要：

VHL syndrome （yon Hippel-Lindau syndrome, VHL; MIM 193300） is an autosomal dominant in- herited multisystemic tumor syndrome. The most common manifestations of VHL are retinal or the central nervous system （CNS） hemangioblastomas. Complications of CNS hemangioblastomas and renal cell carcino- mas （RCC） are the leading causes of death in patients with VHL. This disease is mainly caused by mutations of the yon Hipple-Lindau gene （VHL）, and the cyclin D1 gene （CCND1） mutations and its protein abnormality may also cause this disorder. Now many VHL-deficient animal models are generated. Here the known genetic research advances of VHL syndrome are summarized.