Department of Neurosurgery, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu Province, PR China.
Int J Mol Med. 2012 Jan;29(1):47-52. doi: 10.3892/ijmm.2011.808. Epub 2011 Oct 4.
Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome caused by mutations or deletions within the VHL tumor-suppressor gene, but VHL germline mutations in the Chinese have rarely been studied. To investigate the genetic profile of VHL mutations in the Chinese population, we evaluated the clinical characteristics of seven Chinese families suffering from VHL disease and determined the particular germline mutations in their VHL genes. Direct sequencing and real-time quantitative PCR was carried out. Disease-associated genetic abnormalities were identified in all of the seven families examined. Two novel intragenic germline mutations (645 G insertion and 417 G deletion) were identified and are reported for the first time. Partial VHL gene deletions in exon 1 were found in two of the seven families. Three clinically asymptomatic mutation carriers were also identified. The spectrum of VHL gene abnormalities in our group is distinct from that observed in North America, Europe and Japan. These mutations are also different from those previously identified in other Chinese VHL patients. Future meta-analysis will provide greater perspective on the Chinese VHL genetic profile. VHL gene screening can play a key role in identifying asymptomatic patients who are carriers of VHL-predisposing genetic abnormalities.
希佩尔-林道（VHL）病是一种遗传性肿瘤综合征，由 VHL 肿瘤抑制基因中的突变或缺失引起，但中国人的 VHL 种系突变很少被研究过。为了研究中国人 VHL 基因突变的遗传特征，我们评估了 7 个患有 VHL 病的中国家庭的临床特征，并确定了他们 VHL 基因中的特定种系突变。进行了直接测序和实时定量 PCR。在所有检查的 7 个家庭中都发现了与疾病相关的遗传异常。鉴定出了两个新的基因内种系突变（645G 插入和 417G 缺失），这是首次报道。在 7 个家庭中的 2 个发现了外显子 1 中的部分 VHL 基因缺失。还发现了 3 个临床无症状的突变携带者。我们组的 VHL 基因突变谱与在北美、欧洲和日本观察到的不同。这些突变也与其他中国 VHL 患者以前鉴定的突变不同。未来的荟萃分析将提供更广泛的视角来研究中国 VHL 的遗传特征。VHL 基因筛查可以在识别携带 VHL 易感性遗传异常的无症状患者方面发挥关键作用。
