Hereditary pulmonary arterial hypertension (HPAH) is characterized by widespread, progressive occlusion of the smallest pulmonary arteries. As the vessels become narrowed, pulmonary arterial pressure increases, resulting in compensatory hypertrophy of the right ventricle. As this disease progresses the right ventricle weakens eventually resulting in right heart failure. HPAH is associated with autosomal dominant mutations in the bone morphogenetic protein receptor, type II (BMPR2) gene, a member of the transforming growth factor-beta superfamily of receptors. However, due to reduced penetrance, only 20% of individuals with BMPR2 gene mutations develop symptoms of pulmonary arterial hypertension. Mutations in BMPR2 are detected in approximately 75% of HPAH patients and approximately 25% of idiopathic pulmonary arterial hypertension (IPAH) patients.
The purpose of this database is to collect and document all known BMPR2 gene variants, provide a pathogenicity classification and references for each. The Genbank reference sequences used for this database are: NC_000002.11 and NM_001204.6.
ARUP Laboratories offers the following molecular testing:
- Pulmonary Arterial Hypertension (BMPR2) Sequencing, (test 2003410)
- Pulmonary Arterial Hypertension (BMPR2) Sequencing and Deletion/Duplication, (test 2003405 )
- Pulmonary Arterial Hypertension (BMPR2) Deletion/Duplication, (test 2003401)
- Familial mutation, Targeted Sequencing, (test 2001961)
The BMPR2 database currently has 270 total entries.
When using this resource in publications please link to: