Novel homozygous BMP9 nonsense mutation causes pulmonary arterial hypertension: a case report

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• 作者：Guoliang Wang ; Rui Fan ; Ruirui Ji ; Wenxin Zou ; Daniel J. Penny…
• 关键词：Pulmonary arterial hypertension ; BMP9 ; Nonsense mutation
• 刊名：BMC Pulmonary Medicine
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：16
• 期：1
• 全文大小：669 KB
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• 作者单位：Guoliang Wang (1)
  Rui Fan (1) (3)
  Ruirui Ji (1)
  Wenxin Zou (1)
  Daniel J. Penny (1)
  Nidhy P. Varghese (2)
  Yuxin Fan (1)
  
  1. John Welsh Cardiovascular Diagnostic Laboratory, Section of Cardiology, Department of Pediatrics, Texas Children’s Hospital, Baylor College of Medicine, 1102 Bates Ave, Suite 430.09, Houston, TX, 77030, USA
  3. Department of Pediatrics, Xijing Hospital, The Fourth Military Medical University, Xi’an, 710032, Shanxi, China
  2. Section of Pulmonology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA
  
• 刊物主题：Pneumology/Respiratory System; Internal Medicine;
• 出版者：BioMed Central
• ISSN：1471-2466

文摘

Background Pulmonary arterial hypertension (PAH) is a rare, progressive, fatal vascular disorder. Genetic predisposition plays vital roles in the development of PAH, with most mutations being identified in genes involved in the transforming growth factor beta (TGF-β) signaling pathways. Defects in the BMP9 gene have been documented in hereditary hemorrhagic telangiectasia (HHT), the most common inherited vascular disorder, which is occasionally associated with PAH. Selective enhancement of endothelial BMPR2 with BMP9 reverses pulmonary arterial hypertension.