中文摘要：

目的通过分析以脑血管母细胞瘤为首诊的希佩尔一林道（VonHippel—Lindau，VHL）综合征家系家族成员患病情况，临床诊治以及受试者基因分析，讨论VHL基因的突变情况。方法将VHL综合征家系全部成员完善所有相关检查后绘制家系图谱，对家族内所有成员均抽取5m1外周血进行基因测序，并将测序结果同NCBI数据库中VHL已报道突变进行比对。结果（1）家系4名成员临床资料分析：Ⅰ-2、Ⅱ-1、Ⅱ-5患有中枢神经系统血管母细胞瘤；Ⅱ-3合并胰腺、视网膜病变及嗜铬细胞瘤；Ⅱ-5还合并肾脏、胰腺病变。家族内第二代患者均已行手术治疗。（2）基因测序结果发现：该家系所有受试者的二号外显子109位缺失“ATATCACACTGCCA”14个碱基片段，导致外显子502位提前出现终止密码子UGA。结论通过对该VHL综合征家系进行基因突变检测发现，该家族突变类型属于新型突变。对于以中枢神经系统血管母细胞瘤为首诊的患者，应怀疑本疾病并完善家族史调查。家族性VHL综合征患者一旦确诊，需立刻通知家族内其他成员进行临床筛查，并且进行基因检测，降低本疾病的危害性。

英文摘要：

Objective To detect the mutations of Von Hippel-Lindau （VHL） gene via analyzing the prevalence of family members of VHL syndrome, clinical diagnosis and treatment, and gene analysis of pa- tients with hemangioblastoma. Methods All members of the VHL syndrome family members improved all relevant tests and plotted the family map. 5 ml peripheral blood was extracted for gene sequencing, and the sequencing results were compared with the reported mutations of VHL gene in NCBI database. Results （1）Analysis of clinical data of four members of the family： Ⅰ-2, Ⅱ-1, Ⅱ-5 suffering from central nervous system hemangioblastoma, Ⅱ-3 with pancreatic, retinopathy and pheoehromoeytoma, and Ⅱ-5 also combined with kidney, pancreatic lesions. The second generation of patients in the family have been treated surgically. （2） Gene sequencing results showed that all subjects in the test had the same mutation：exon2 109 sequence ATATCACACTGCCA was deleted and termination codon UGA appeared in exon 502. Conclusion Through the mutations of the VHL syndrome family, it is found that the family mutation type is a new mutation. For patients with central nervous system hemangioblastoma-based should be suspected of the disease and improve the family history survey.Once the diagnosis of familial VHL syndrome patients are confirmed,it is necessary to inform the other members of the family for clinical screening, and carry out genetic testing to reduce the harm of the disease to the greatest extent.