Publications
Detailed Information
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Lee, Jee-Soo | - |
dc.contributor.author | Lee, Ji-Hyun | - |
dc.contributor.author | Lee, Kyu Eun | - |
dc.contributor.author | Kim, Jung Hee | - |
dc.contributor.author | Hong, Joon Mo | - |
dc.contributor.author | Ra, Eun Kyung | - |
dc.contributor.author | Seo, Soo Hyun | - |
dc.contributor.author | Lee, Seung Jun | - |
dc.contributor.author | Kim, Man Jin | - |
dc.contributor.author | Park, Sung Sup | - |
dc.contributor.author | Seong, Moon-Woo | - |
dc.date.accessioned | 2017-03-17T04:57:38Z | - |
dc.date.available | 2017-03-17T14:39:31Z | - |
dc.date.issued | 2016-07-20 | - |
dc.identifier.citation | BMC Medical Genetics, 17(1):48 | ko_KR |
dc.identifier.uri | https://hdl.handle.net/10371/109779 | - |
dc.description.abstract | Background
von Hippel-Lindau (VHL) disease is a rare hereditary tumor syndrome caused by VHL gene mutations that is characterized by heterogeneous phenotypes such as benign/malignant tumors of the central nervous system, retina, kidney, adrenal gland, and pancreas. The genotype-phenotype correlation has not been well characterized in the Korean population so far. Therefore, this study aimed to evaluate the VHL mutation spectrum and genotype-phenotype correlations in Korean VHL patients. Methods Thirteen unrelated subjects with VHL mutations were included. Direct sequencing and multiplex ligation-dependent probe amplification were performed. Consequently, the clinical manifestations and family histories of the subjects were evaluated. Results We identified 10 different VHL mutations. The c.160_161delAT frameshift mutation was novel. Missense mutations clustered in 2 domains (α domain in exon 1; β domain in exon 3). The most frequently observed mutation was c.208G > A (p.Glu70Lys). Milder phenotypes were observed in subjects with de novo mutations. Age-specific risk for CNS hemangioblastoma was significantly higher in subjects carrying missense mutations within the HIF-α binding site (P < 0.05). Conclusions This study provides insight into the genotype-phenotype correlation in that amino acid substitutions in the HIF-α binding site may predispose patients to age-related risks of CNS hemangioblastoma. | ko_KR |
dc.language.iso | en | ko_KR |
dc.publisher | BioMed Central | ko_KR |
dc.subject | Genotype-phenotype correlation | ko_KR |
dc.subject | Hypoxia-inducible factor 1 | ko_KR |
dc.subject | von Hippel-Lindau disease | ko_KR |
dc.subject | von Hippel-Lindau Tumor suppressor protein | ko_KR |
dc.title | Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma | ko_KR |
dc.type | Article | ko_KR |
dc.contributor.AlternativeAuthor | 이지수 | - |
dc.contributor.AlternativeAuthor | 이지현 | - |
dc.contributor.AlternativeAuthor | 이규은 | - |
dc.contributor.AlternativeAuthor | 김정희 | - |
dc.contributor.AlternativeAuthor | 홍준모 | - |
dc.contributor.AlternativeAuthor | 라은경 | - |
dc.contributor.AlternativeAuthor | 서수현 | - |
dc.contributor.AlternativeAuthor | 이승준 | - |
dc.contributor.AlternativeAuthor | 김만진 | - |
dc.contributor.AlternativeAuthor | 박성섭 | - |
dc.contributor.AlternativeAuthor | 성문우 | - |
dc.identifier.doi | 10.1186/s12881-016-0306-2 | - |
dc.language.rfc3066 | en | - |
dc.rights.holder | The Author(s). | - |
dc.date.updated | 2017-01-06T10:30:11Z | - |
- Appears in Collections:
- Files in This Item:
Item View & Download Count
Items in S-Space are protected by copyright, with all rights reserved, unless otherwise indicated.