Ontology highlight
ABSTRACT:
SUBMITTER: Hamid R
PROVIDER: S-EPMC2663001 | biostudies-literature | 2009 Apr
REPOSITORIES: biostudies-literature
Hamid Rizwan R Cogan Joy D JD Hedges Lora K LK Austin Eric E Phillips John A JA Newman John H JH Loyd James E JE
Human mutation 20090401 4
Familial pulmonary arterial hypertension (FPAH) is a progressive, fatal disease caused by mutations in the bone morphogenetic protein receptor type 2 gene (BMPR2). FPAH is inherited as an autosomal dominant trait, and shows incomplete penetrance in that many with BMPR2 mutations do not develop FPAH, suggesting a role for, as yet unidentified, modifier genes in disease penetrance. We hypothesized that variable levels of expression of the wild-type (WT) BMPR2 allele could act as a modifier and inf ...[more]