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BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.

Abstract：

:Hereditary hemorrhagic telangiectasia (HHT), the most common inherited vascular disorder, is caused by mutations in genes involved in the transforming growth factor beta (TGF-β) signaling pathway (ENG, ACVRL1, and SMAD4). Yet, approximately 15% of individuals with clinical features of HHT do not have mutations in these genes, suggesting that there are undiscovered mutations in other genes for HHT and possibly vascular disorders with overlapping phenotypes. The genetic etiology for 191 unrelated individuals clinically suspected to have HHT was investigated with the use of exome and Sanger sequencing; these individuals had no mutations in ENG, ACVRL1, and SMAD4. Mutations in BMP9 (also known as GDF2) were identified in three unrelated probands. These three individuals had epistaxis and dermal lesions that were described as telangiectases but whose location and appearance resembled lesions described in some individuals with RASA1-related disorders (capillary malformation-arteriovenous malformation syndrome). Analyses of the variant proteins suggested that mutations negatively affect protein processing and/or function, and a bmp9-deficient zebrafish model demonstrated that BMP9 is involved in angiogenesis. These data confirm a genetic cause of a vascular-anomaly syndrome that has phenotypic overlap with HHT.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Wooderchak-Donahue WL,McDonald J,O'Fallon B,Upton PD,Li W,Roman BL,Young S,Plant P,Fülöp GT,Langa C,Morrell NW,Botella LM,Bernabeu C,Stevenson DA,Runo JR,Bayrak-Toydemir P

doi

10.1016/j.ajhg.2013.07.004

subject

Has Abstract

pub_date

2013-09-05 00:00:00

pages

530-7

issue

3

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(13)00295-4

journal_volume

93

pub_type

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