English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/176286
Share/Impact:
Statistics
logo share SHARE logo core CORE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE
Exportar a otros formatos:

Title

Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia

AuthorsRuiz-Llorente, Lidia ; McDonald, Jamie; Wooderchak-Donahue, Whitney; Briggs, Eric; Chesnutt, Mark; Bayrak-Toydemir, Pinar; Bernabéu, Carmelo
Issue Date6-Feb-2019
PublisherSpringer Nature
CitationJournal of Human Genetics (2019)
AbstractHereditary hemorrhagic telangiectasia (HHT) is a vascular disease characterized by nose and gastrointestinal bleeding, telangiectases in skin and mucosa, and arteriovenous malformations in major internal organs. Most patients carry a mutation in the coding region of the endoglin (ENG) or activin A receptor type II-1 (ACVRL1) gene. Nonetheless, in around 15% of patients, sequencing analysis and duplication/deletion tests fail to pinpoint mutations in the coding regions of these genes. In these cases, it has been shown that sequencing of the 5'-untranslated region (5'UTR) of ENG may be useful to identify novel mutations in the ENG non-coding region. Here we report the genetic characterization and functional analysis of the heterozygous mutation c.-142A>T in the 5'UTR region of ENG found in a family with several members affected by HHT. This variant gives rise to a new initiation codon of the protein that involves the change in its open reading frame. Transfection studies in monkey cells using endoglin expression vectors demonstrated that c-142A>T mutation results in a clear reduction in the levels of the endoglin protein. These results support the inclusion of the 5'UTR of ENG in the standard genetic testing for HHT to increase its sensitivity.
Description7 p.-4 fig.
Publisher version (URL)https://doi.org/10.1038/s10038-019-0564-x
URIhttp://hdl.handle.net/10261/176286
DOIhttp://dx.doi.org/10.1038/s10038-019-0564-x
ISSN1434-5161
E-ISSN1435-232X
Appears in Collections:(CIB) Artículos
Files in This Item:
File Description SizeFormat 
JHG_Ruiz-LLorente_2019.pdfArtículo principal1,32 MBAdobe PDFThumbnail
View/Open
Show full item record
Review this work
 


WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.