Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension.

ABSTRACT:

Background

Heritable and idiopathic pulmonary arterial hypertension (PAH) are phenotypically identical and associated with mutations in several genes related to transforming growth factor (TGF) beta signaling, including bone morphogenetic protein receptor type 2, activin receptor-like kinase 1, endoglin, and mothers against decapentaplegic 9. Approximately 25% of heritable cases lack identifiable mutations in any of these genes.

Methods and results

We used whole exome sequencing to study a 3-generation family with multiple affected family members with PAH, but no identifiable TGF beta mutation. We identified a frameshift mutation in caveolin-1 (CAV1), which encodes a membrane protein of caveolae abundant in the endothelium and other cells of the lung. An independent de novo

SUBMITTER: Austin ED 

PROVIDER: S-EPMC3380156 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature