Open AccessRole of BMPR2 Alternative Splicing in Heritable Pulmonary Arterial Hypertension Penetrance
Author(s) -
Joy D. Cogan,
Eric D. Austin,
Lora K. Hedges,
Bethany Womack,
James West,
James E. Loyd,
Rizwan Hamid
Publication year - 2012
Publication title -
circulation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.795
H-Index - 607
eISSN - 1524-4539
pISSN - 0009-7322
DOI - 10.1161/circulationaha.112.106245
Subject(s) - bmpr2 , penetrance , exon , gene knockdown , gene isoform , alternative splicing , medicine , mutation , microbiology and biotechnology , rna splicing , cancer research , endocrinology , biology , genetics , gene , phenotype , bone morphogenetic protein , rna
Bone morphogenic protein receptor 2 (BMPR2) gene mutations are the most common cause of heritable pulmonary arterial hypertension. However, only 20% of mutation carriers get clinical disease. Here, we explored the hypothesis that this reduced penetrance is due in part to an alteration in BMPR2 alternative splicing.
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