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Title

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

AuthorsWooderchak-Donahue, Whitney; McDonald, Jamie; O'Fallon, Brendan D.; Upton, Paul D.; Li, Wei; Roman, Beth L.; Young, Sarah; Plant, Parker; Fülöp, Gyula T.; Langa, Carmen ; Morrell, Nicholas W.; Botella, Luisa María ; Bernabéu, Carmelo ; Stevenson, David A.; Runo, James R.; Bayrak-Toydemir, Pinar
KeywordsKinase 1 alk1
Rasa1 mutations
Arteriovenous-malformations
Endothelial-cells
Weber-syndrome
Zebrafish
Capillary
Identification
Receptors
Locus
Issue Date5-Sep-2013
PublisherElsevier
CitationAm J Hum Genet 93 (3) 530-537 (2013)
AbstractHereditary 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.
Description8 p.-5 fig.-1 tab.
Publisher version (URL)https://doi.org/10.1016/j.ajhg.2013.07.004
URIhttp://hdl.handle.net/10261/213188
DOIhttp://dx.doi.org/10.1016/j.ajhg.2013.07.004
ISSN0002-9297
E-ISSN1537-6605
Appears in Collections:(CIB) Artículos
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