BACKGROUND Von Hippel-Lindau (VHL) syndrome is a familial autosomal dominant hereditary neoplastic disease caused by mutations in the VHL gene. Approximately 503 kinds of VHL gene mutations have been reported. Different types of mutations manifest various clinical phenotypes, from benign to malignant tumours or coexisting cysts. Thus, a gene mutation test is essential in the diagnosis of VHL syndrome. CASE PRESENTATION We reported two cases in which a novel mutation site in the c530-536delGACTGGA region in exon 3 of the VHL gene resulted in the development of VHL syndrome. According to the ACMG guidelines, this variation is pathogenic and consistent with autosomal dominant inheritance. This variation has not been reported anywhere in the databases or literature. CONCLUSION This report will add a new mutation site to VHL gene databases. The newly added gene mutation and its associated clinical phenotypes will help improve the accuracy of VHL diagnosis and benefit the community of VHL gene mutation carriers.

中文翻译：

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von Hippel-Lindau病中的新基因突变-两例报道。

背景技术Von Hippel-Lindau（VHL）综合征是由VHL基因突变引起的家族性常染色体显性遗传性肿瘤性疾病。已经报道了大约503种VHL基因突变。不同类型的突变表现出各种临床表型，从良性到恶性肿瘤或并存的囊肿。因此，基因突变测试对于VHL综合征的诊断至关重要。病例介绍我们报道了两个案例，其中VHL基因第3外显子的c530-536delGACTGGA区有一个新的突变位点，导致VHL综合征的发生。根据ACMG指南，这种变异是致病的，并且与常染色体显性遗传一致。在数据库或文献中的任何地方都没有报告过这种变化。结论本报告将为VHL基因数据库增加一个新的突变位点。