[Mutation analysis for a family affected with von Hippel-Lindau syndrome].

Objective: To detect VHL gene mutation in a pedigree affected with von Hippel-Lindau syndrome (VHL).

Methods: Clinical data of the pedigree was reviewed. Patients were subjected to Sanger sequencing to detect mutation of the VHL gene. Structure of pVHL was predicted by 3D modeling using the swiss-model.

Results: A novel c.426delT(p.V142fs) [NM_000551] mutation was found in exon 2 of the VHL gene. 3D modeling suggested that the alpha-structure of pVHL is completely absent.

Conclusion: The novel c.426delT(p.V142fs) mutation probably underlies the VHL in this pedigree.