Insights into the genetic and molecular basis of primary pulmonary hypertension.
The pathogenesis of primary pulmonary hypertension (PPH) remains poorly understood. Molecular genetic studies have identified that mutations within the gene BMPR2 on the long arm of chromosome 2 underlie familial PPH. This review explores the significance of the PPH gene identification and examines additional genetic determinants, emphasizing the immediate implications for assessment and management of patients and their relatives.
Trembath
Richard C
RC
Division of Medical Genetics, Department of Medicine, Leicester University, Leicester, LE1 7RH, UK. rtrembat@hgmp.mrc.ac.uk
Harrison
Rachel
R
D052006:Bone Morphogenetic Protein Receptors, Type II; D005820:Genetic Testing; D006801:Humans; D006976:Hypertension, Pulmonary / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D013684:Telangiectasis / Q000235:genetics; D016212:Transforming Growth Factor beta / Q000235:genetics
D016212:Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II