title: Genetics of primary pulmonary hypertension.
abstract: Familial primary pulmonary hypertension (FPPH) is a well described clinical entity in which the disease occurs in at least two first degree relatives. It is clinically and pathologically indistinguishable from sporadic PPH. Mutations in the gene which encodes bone morphogenetic receptor 2 have recently been discovered in familial and sporadic PPH. This review discusses the basic clinical and genetic features of FPPH, and describes the research that led to the discovery of the disease-causing gene. Potential mechanisms of disease are also discussed, as well as implications for future investigations.
authors.affiliation: Division of Allergy, Pulmonary and Critical Care Medicine, Center for Lung Research, Vanderbilt University School of Medicine, Nashville, Tennessee, USA. alan.thomas@mcmail.vanderbilt.edu
authors.forename: A Q
authors.initials: AQ
authors.lastname: Thomas
authors.forename: R
authors.initials: R
authors.lastname: Gaddipati
authors.forename: J H
authors.initials: JH
authors.lastname: Newman
authors.forename: J E
authors.initials: JE
authors.lastname: Loyd
mesh_terms: D052006:Bone Morphogenetic Protein Receptors, Type II; D005260:Female; D008040:Genetic Linkage; D018095:Germ-Line Mutation; D006439:Hemodynamics; D006801:Humans; D006976:Hypertension, Pulmonary / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D015994:Incidence; D008297:Male; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D011956:Receptors, Cell Surface / Q000235:genetics; D012737:Sex Factors
chemical_list: D011956:Receptors, Cell Surface; D017346:Protein Serine-Threonine Kinases; C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II