Novel Mutations and Decreased Expression of the Epigenetic Regulator <i>TET2</i> in Pulmonary Arterial Hypertension

Abstract

PAH is the first human disease related to potential <i>TET2</i> germline mutations. Inherited and acquired abnormalities of <i>TET2</i> occur in 0.39% of PAH cases. Decreased <i>TET2</i> expression is ubiquitous and has potential as a PAH biomarker.