Whole-exome sequencing identified a novel mutation of BMPR2 in a Chinese family with pulmonary arterial hypertension

BMPR2 encodes the bone morphogenetic protein receptor type 2. Most of heritable pulmonary arterial hypertension is caused by mutations of BMPR2. Pulmonary arterial hypertension is characterized by increased pulmonary vascular resistance and sustained elevation of mean pulmonary arterial pressure. Here we sought to identify novel mutations in a family with pulmonary arterial hypertension. Whole-exome sequencing obtained variants data from the patient's blood Genomic DNA who was diagnosed with pulmonary arterial hypertension. Sanger sequencing was used to confirm potential causative variants in the patient. A novel frame-shift mutation in BMPR2 (NM_001204:c.453dupA, p.I152Nfs*29) was identified in the patient with pulmonary arterial hypertension, she also had subclinical hypothyroidism and hyperuricemia. This frame-shift mutation will cause the BMPR2 protein loss of function, leading to the obstruction of BMPs signaling pathway, further affect the growth, proliferation and differentiation of vascular cells. Our study expands the spectrum of BMPR2 mutations and enriches the clinical features.