Open AccessIdentification of a novel mutation in the BMPR2 gene in a pulmonary arterial hypertension patient using next‐generation sequencing
Author(s) -
Xu Xiao,
Wang Xin,
Yang GuoCan,
Liu Qi
Publication year - 2022
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.24183
Subject(s) - bmpr2 , proband , medicine , mutation , genetic testing , pulmonary hypertension , cardiology , acvrl1 , gene mutation , bioinformatics , pathology , bone morphogenetic protein , genetics , gene , biology , endoglin , stem cell , cd34
Background Pulmonary arterial hypertension (PAH) is a hemodynamic state that is characterized by pulmonary vasoconstriction and vascular remodeling, leading to a continuous increase in mean pulmonary arterial pressure, and eventually right heart failure. Mutations of the bone morphogenetic protein type II receptor ( BMPR2 ) gene are the most common genetic cause of PAH. Methods A 52‐year‐old woman was admitted to Shaoxing People's Hospital after suffering from a cough for 2 months. In our hospital, the proband got a thorough medical examination and was diagnosed with PAH following genetic testing. Results Genetic test showed that the proband carried a novel heterozygous c.1481C>T (p.Ala494Val) mutation in the BMPR2 gene. The new mutation was initially discovered as a potential pathogenic variant by bioinformatics research, but it needed to be functionally verified. Conclusions The novel mutation may be related to the development of the PAH. In addition to general examinations, clinicians must thoroughly examine molecular genetics to provide an accurate diagnosis in the clinic, particularly for rare disorders.