Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease

Saleh Albanyan, Rachel H Giles, Enric Mocholi Gimeno, Josh Silver, Jillian Murphy, Hanna Faghfoury, Chantal F Morel, Jerry Machado, Raymond H Kim

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome in which carriers are at an increased risk of developing a variety of tumors in multiple organ systems. A clinical diagnosis of VHL is determined by the presence of specific clinical manifestations while a molecular genetic diagnosis results from a pathogenic variant in the VHL gene. The majority of mutations occur in VHL coding exons and DNA analysis of these regions has a reported sensitivity of nearly 100%. However, rare variants in the VHL gene promoter may be detected in some cases of suspected VHL disease. We report two cases where VHL promoter variants were detected and describe the role of multi-step mRNA and protein analysis in the diagnostic evaluation of these cases.

Original languageEnglish
Pages (from-to)177-181
Number of pages5
JournalEuropean Journal of Medical Genetics
Volume62
Issue number3
Early online date10 Jul 2018
DOIs
Publication statusPublished - Mar 2019

Keywords

  • Promoter
  • mRNA
  • VHL
  • Protein
  • Promoter Regions, Genetic
  • Humans
  • Middle Aged
  • Male
  • RNA, Messenger/genetics
  • Von Hippel-Lindau Tumor Suppressor Protein/genetics
  • Pedigree
  • Adult
  • Female
  • Mutation
  • von Hippel-Lindau Disease/genetics

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