[Pulmonary arterial hypertension in a pedigree with bone morphogenetic protein receptor 2 c.282 mutation]

Zhonghua Xin Xue Guan Bing Za Zhi. 2023 Jul 24;51(7):769-772. doi: 10.3760/cma.j.cn112148-20220620-00484.
[Article in Chinese]

Abstract

家族性遗传性肺动脉高压是一种罕见的遗传病，骨形态发生蛋白受体2（BMPR2）基因突变是其主要病因之一。该文报道一家系中3名成员被确诊为肺动脉高压（PAH）。全外显子测序分析结果显示，这3例PAH患者均存在一个新的BMPR2无义突变（c.282T>A，p.Cys94Ter）。.

MeSH terms

  • Bone Morphogenetic Protein Receptors, Type II / genetics
  • Bone Morphogenetic Protein Receptors, Type II / metabolism
  • Familial Primary Pulmonary Hypertension
  • Humans
  • Mutation
  • Pedigree
  • Pulmonary Arterial Hypertension*

Substances

  • Bone Morphogenetic Protein Receptors, Type II