Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1.

doi:10.1186/s12881-017-0380-0

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Article

Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1.

BMC medical genetics - 23 Feb 2017

Albiñana Virginia, Zafra Ma Paz, Colau Jorge, Zarrabeitia Roberto, Recio-Poveda Lucia, Olavarrieta Leticia, Pérez-Pérez Julián, Botella Luisa M

Abstract excerpt

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a vascular multi-organ system disorder. Its diagnostic criteria include epistaxis, telangiectases in mucocutaneous sites, arteriovenous malformations (AVMs), and familial inheritance. HHT is transmitted as an autosomal dominant condition, caused in 85% of cases by mutations in either Endoglin (ENG) or Activin receptor-like kinase (ACVRL1/ACVRL1/ALK1)...

Topics

Activin Receptors, Type II
Alleles
Base Sequence
Cell Line
DNA
Endoglin
Exons
Genes, Reporter
Genotype
Humans
Monocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Phenotype

Polymorphism, Single Nucleotide

Promoter Regions, Genetic

Protein Binding

Telangiectasia, Hereditary Hemorrhagic

Source

Open in PubMed Open full text

Identifiers

PMID: 28231770
DOI: 10.1186/s12881-017-0380-0
PMCID: PMC5324315

Genes

ENG
ACVRL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1.PMID 28231770Read ↗

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Novel uAUG creating variants in the 5’UTR of ENG causing Hereditary Hemorrhagic TelangiectasiaSemantic proximity Read ↗

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