Mutation analysis for a family affected with von Hippel-Lindau syndrome.
10.3760/cma.j.issn.1003-9406.2018.06.020
- Author:
Jinxiu LIU
1
,
2
;
Yifan WANG
;
Sheng WANG
;
Hongwei SI
;
Wenyuan DUAN
Author Information
1. Yinfeng Medical Laboratory, Jinan, Shandong 250000, China. dwy2115@126.com
2. 13375388350@126.com.
- Publication Type:Journal Article
- MeSH:
DNA Mutational Analysis;
Exons;
Humans;
Mutation;
Pedigree;
Von Hippel-Lindau Tumor Suppressor Protein;
genetics;
von Hippel-Lindau Disease;
genetics
- From:
Chinese Journal of Medical Genetics
2018;35(6):860-863
- CountryChina
- Language:Chinese
-
Abstract:
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.
