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Article

Allelic dropout in the ENG gene, affecting the results of genetic testing in hereditary hemorrhagic telangiectasia.

Genetic testing and molecular biomarkers - 1 Dec 2012

Tørring Pernille M, Kjeldsen Anette D, Ousager Lilian Bomme, Brasch-Andersen Charlotte, Brusgaard Klaus

Abstract excerpt

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular disorder with three disease-causing genes identified to date: ENG, ACVRL1, and SMAD4. We report an HHT patient with allelic dropout that on routine sequence analysis for a known mutation in the family (c.817-3T>G in ENG) initially seemed to be homozygous for the mutation. AIM: To explore the possibility of allelic dropout...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23046070
DOI: 10.1089/gtmb.2012.0230

Genes

ENG
ACVRL1
SMAD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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