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Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel–Lindau (VHL) disease

Authors
 Sena Hwang  ;  Cheol Ryong Ku  ;  Ji In Lee  ;  Kyu Yeon Hur  ;  Myung-Shik Lee  ;  Chul-Ho Lee  ;  Kyo Yeon Koo  ;  Jin-Sung Lee  ;  Yumie Rhee 
Citation
 JOURNAL OF HUMAN GENETICS, Vol.59(9) : 488-493, 2014 
Journal Title
 JOURNAL OF HUMAN GENETICS 
ISSN
 1434-5161 
Issue Date
2014
MeSH
Adult ; Amino Acid Substitution* ; Asian Continental Ancestry Group/genetics ; Child ; DNA Mutational Analysis ; Female ; Gene Frequency ; Genotype ; Germ-Line Mutation* ; Humans ; Male ; Middle Aged ; Phenotype ; Republic of Korea ; Retrospective Studies ; Von Hippel-Lindau Tumor Suppressor Protein/genetics* ; Young Adult ; von Hippel-Lindau Disease/ethnology ; von Hippel-Lindau Disease/genetics* ; von Hippel-Lindau Disease/pathology
Abstract
Von Hippel–Lindau (VHL) disease is an inherited tumor syndrome caused by germline mutations in the VHL tumor suppressor gene. It is characterized by hemangioblastoma in the central nervous system and retina, renal cell carcinoma, pancreatic tumor and cysts, and pheochromocytoma. In this study, we detected 26 germline mutations in the VHL gene of Korean patients, of which 1 was a novel mutation, c.417_418insT. We also integrated our data from this study with the published literature to identify 55 VHL germline mutations in Koreans, and identified a unique hotspot at codon 70. Nine unrelated patients (9/55, 16.4%) had the same amino-acid substitution at codon 70 (Glu70Lys) and showed VHL type 1 phenotypes. Although this mutation was shown to have a mild effect on VHL function, four of the nine patients (44.4%) subsequently developed multiple central nervous system hemangioblastomas or retinal hemangioblastoma. However, this hotspot has not been identified in Chinese or Japanese patients. This study provides information on the spectrum of VHL mutations in Korean VHL disease and contributes to a better understanding of VHL disease in terms of improvements in the clinical management of VHL families.
Full Text
http://www.nature.com/jhg/journal/v59/n9/full/jhg201461a.html
DOI
10.1038/jhg.2014.61
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Yonsei Biomedical Research Center (연세의생명연구원) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Clinical Genetics (임상유전학과) > 1. Journal Papers
Yonsei Authors
Goo, Kyo Yeon(구교연)
Ku, Cheol Ryong(구철룡) ORCID logo https://orcid.org/0000-0001-8693-9630
Rhee, Yumie(이유미) ORCID logo https://orcid.org/0000-0003-4227-5638
Lee, Jin Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
Lee, Chul Ho(이철호)
Hwang, Se Na(황세나)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/99852
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