A Novel Mutation in the Von Hippel-Lindau Tumor Suppressor Gene Identified in a Patient Presenting with Gestational Diabetes Mellitus
구윤희, 안창호, 정찬현, 이지은, 김이경, 곽수헌, 정혜승, 박경수, 조영민,
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구윤희 ( Ku Yun-Hyi )
Korea Cancer Center Hospital Department of Internal Medicine
안창호 ( Ahn Chang-Ho )
Seoul National University College of Medicine Department of Internal Medicine
정찬현 ( Jung Chan-Hyeon )
Seoul National University College of Medicine Department of Internal Medicine
이지은 ( Lee Jie-Eun )
Seoul National University College of Medicine Department of Internal Medicine
김이경 ( Kim Lee-Kyung )
Seoul National University College of Medicine Department of Internal Medicine
곽수헌 ( Kwak Soo-Heon )
Seoul National University College of Medicine Department of Internal Medicine
정혜승 ( Jung Hye-Seung )
Seoul National University College of Medicine Department of Internal Medicine
박경수 ( Park Kyong-Soo )
Seoul National University College of Medicine Department of Internal Medicine
조영민 ( Cho Young-Min )
Seoul National University College of Medicine Department of Internal Medicine
KMID : 0356620130280040320
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.
키워드
von Hippel-Lindau disease; VHL gene; Diabetes; gestational
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