Hypertension and brachydactyly syndrome: a further case report

Introduction Hypertension and brachydactyly syndrome (HTNB) is characterized by brachydactyly type E (BDE) with autosomal dominant inherited, age-dependent and sodium-insensitive hypertension from an early age. Based on the present research findings, the PDE3A gene is responsible for HTNB, which is located at 12p12.2-p11.2 and is abundantly expressed in platelet, heart and vascular smooth muscle. PDE3A encodes phosphodiesterase 3A which hydrolyzes cyclic GMP (cGMP) and cyclic AMP (cAMP). Laboratory experiments suggested that PDE3A variants in HTNB-affected individuals are gain-of-function variants as they increase protein kinase A (PKA)mediated phosphorylation of phosphodiesterase 3A which leads to hyperactivation of phosphodiesterase 3A (Ercu et al., 2020). In this study, we identified a missense variant (c.1340C>T) in PDE3A of a Chinese family with HTNB and emphasized clinical features and diagnostic evaluation of this rare disease.