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Article

Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis.

American journal of human genetics - 3 Oct 2024

DeBose-Scarlett Evon, Ressler Andrew K, Gallione Carol J, Sapisochin Cantis Gonzalo, Friday Cassi, Weinsheimer Shantel, Schimmel Katharina, Spiekerkoetter Edda, Kim Helen, Gossage James R, Faughnan Marie E, Marchuk Douglas A

Abstract excerpt

Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of vascular malformations characterized by mucocutaneous telangiectases and arteriovenous malformations (AVMs) in internal organs. HHT is caused by inheritance of a loss of function mutation in one of three genes. Although individuals with HHT are haploinsufficient for one of these genes throughout their entire body, rather than exhibiting a...

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Activin Receptors, Type II
Alleles
Arteriovenous Malformations
Germ-Line Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Loss of Heterozygosity

Telangiectasia, Hereditary Hemorrhagic

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PMID: 39299239
DOI: 10.1016/j.ajhg.2024.08.020
PMCID: PMC11480799

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