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Article

Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children.

Molecular genetics & genomic medicine - 1 Dec 2021

Hodgson Joshua, Ruiz-Llorente Lidia, McDonald Jamie, Quarrell Oliver, Ugonna Kelechi, Bentham James, Mason Rebecca, Martin Jennifer, Moore David, Bergstrom Katie, Bayrak-Toydemir Pinar, Wooderchak-Donahue Whitney, Morrell Nicholas W, Condliffe Robin, Bernabeu Carmelo, Upton Paul D

Abstract excerpt

BACKGROUND: Disrupted endothelial BMP9/10 signaling may contribute to the pathophysiology of both hereditary hemorrhagic telangiectasia (HHT) and pulmonary arterial hypertension (PAH), yet loss of circulating BMP9 has not been confirmed in individuals with ultra-rare homozygous GDF2 (BMP9 gene) nonsense mutations. We studied two pediatric patients homozygous for GDF2 (BMP9 gene) nonsense mutations: one with PAH...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33834622
DOI: 10.1002/mgg3.1685
PMCID: PMC8683697

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