OBJECTIVETo investigate the germ line mutations in Chinese kindreds with von Hippel-Lindau syndrome (VHL) and to explore its role in clinical management.

METHODSThe clinical and familial data were reviewed from 6 Chinese kindreds with VHL, of which the VHL germ line mutation in 21 members was analysed by polymerase chain reaction and sequencing analysis.

RESULTSAmong 6 kindreds, there were 5 type I and 1 type IIA. The germ line mutations consisted of 4 missense mutations, 1 nonsense mutation and 1 deletion, of which 4 mutations existed in exon 1, 1 in exon 2 and 1 in exon 3. Of the 21 members who volunteered for genetic analysis, 14 members presented the VHL germ line mutations, including 10 affected patients, 1 suspected patients and 3 carriers.

CONCLUSIONThe germ line mutations in Chinese kindreds with VHL could be dominant in exon 1. It plays an important role in early detection of asymptomatic patients and the carriers, in the diagnosis of VHL and the clinical screening for members in the VHL families.