Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease.
Promoter
Protein
VHL
mRNA
Journal
European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089
Informations de publication
Date de publication:
Mar 2019
Mar 2019
Historique:
received:
29
12
2017
revised:
10
06
2018
accepted:
09
07
2018
pubmed:
15
7
2018
medline:
9
3
2019
entrez:
15
7
2018
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 30006056
pii: S1769-7212(17)30880-7
doi: 10.1016/j.ejmg.2018.07.006
pii:
doi:
Substances chimiques
RNA, Messenger
0
Von Hippel-Lindau Tumor Suppressor Protein
EC 2.3.2.27
VHL protein, human
EC 6.3.2.-
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
177-181Informations de copyright
Copyright © 2018 Elsevier Masson SAS. All rights reserved.