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Article

Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia.

European journal of human genetics : EJHG - 1 Feb 2026

Darre Haahr Pernille, Hao Qin, Brusgaard Klaus, Larsen Martin Jakob, Lange Bibi, Fialla Annette Dam, Kofoed Mikkel Seremet, Kjeldsen Jens, Schultz Nicolai Aagaard, Kjeldsen Anette Drøhse, Tørring Pernille Mathiesen

Abstract excerpt

Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by mucocutaneous telangiectasias and arteriovenous malformations (AVMs) in internal organs. It is mainly caused by heterozygous pathogenic variants in ENG, ACVRL1 or SMAD4. Somatic mosaic mutations in the functional allele of HHT-causing genes have been identified in skin telangiectasias and AVMs of HHT patients,...

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Topics

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Share to Activin Receptors, Type II
Share to ACVRL1 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41162588
DOI: 10.1038/s41431-025-01962-2
PMCID: PMC12859050

Genes

ACVRL1
ENG
SMAD4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia.PMID 41162588Read ↗

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