High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension.

ABSTRACT:

Rationale

Previous studies have shown that approximately 55% of patients with familial pulmonary arterial hypertension (FPAH) have BMPR2 coding sequence mutations. However, direct sequencing does not detect other types of heterozygous mutations, such as exonic deletions/duplications.

Objective

To estimate the frequency of BMPR2 exonic deletions/duplications in FPAH.

Methods

BMPR2 mRNA from lymphoblastoid cell lines of 30 families with PAH and 14 patients with idiopathic PAH (IPAH) was subjected to reverse transcriptase-polymerase chain reaction (RT-PCR) and sequencing. Sequencing of genomic DNA was used to identify point mutations in splice donor/acceptor sites. Multiplex ligation-dependent probe amplification (MLPA) was used to detect exonic deletions/duplications wi

SUBMITTER: Cogan JD 

PROVIDER: S-EPMC2648061 | biostudies-literature | 2006 Sep

REPOSITORIES: biostudies-literature