A Novel Mutation in the Von Hippel-Lindau Tumor Suppressor Gene Identified in a Patient Presenting with Gestational Diabetes Mellitus.
10.3803/EnM.2013.28.4.320
- Author:
Yun Hyi KU
1
;
Chang Ho AHN
;
Chan Hyeon JUNG
;
Jie Eun LEE
;
Lee Kyung KIM
;
Soo Heon KWAK
;
Hye Seung JUNG
;
Kyong Soo PARK
;
Young Min CHO
Author Information
1. Department of Internal Medicine, Korea Cancer Center Hospital, Seoul, Korea.
- Publication Type:Original Article
- Keywords:
von Hippel-Lindau disease;
VHL gene;
Diabetes, gestational
- MeSH:
Adult;
Brain;
Carcinoma, Renal Cell;
Diabetes, Gestational*;
DNA;
Exons;
Fathers;
Female;
Genes, Tumor Suppressor*;
Hemangioblastoma;
Humans;
Pancreatic Cyst;
Polymerase Chain Reaction;
Pregnancy;
Sequence Analysis, DNA;
Siblings;
Spinal Cord;
von Hippel-Lindau Disease
- From:Endocrinology and Metabolism
2013;28(4):320-325
- CountryRepublic of Korea
- Language:English
-
Abstract:
BACKGROUND: Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited, multisystemic tumor syndrome caused by mutations in the VHL gene. To date, more than 1,000 germline and somatic mutations of the VHL gene have been reported. We present a novel mutation in the VHL tumor suppressor gene that presented with gestational diabetes mellitus. METHODS: A 30-year-old woman presented with gestational diabetes mellitus. She sequentially showed multiple pancreatic cysts, spinal cord hemangioblastoma, cerebellar hemangioblastoma, and clear cell type renal cell carcinomas. Also, her father and brother had brain hemangioblastomas. Each of the three exons of the VHL gene was individually amplified by polymerase chain reaction and direct sequencing was performed using an ABI 3730 DNA analyzer. RESULTS: DNA sequence analysis to determine the presence of VHL mutation in her family revealed del291C, a novel frameshift mutation. CONCLUSION: We found a novel mutation in the VHL tumor suppressor gene that presented with gestational diabetes mellitus.
