article Open AccessTop 1% cited

Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-β family

Journal of Medical Genetics · 2000 · Vol. 37(10) · pp. 741–745

Jennifer R. Thomson✉(University of Utah)Rajiv D Machado(University of Utah)Michael W Pauciulo(University of Utah)Neil V Morgan(Hôpital Antoine-Béclère)Marc Humbert(Hôpital Antoine-Béclère)Greg C Elliott(University of Utah)Ken Ward(Hôpital Antoine-Béclère)Magdi Yacoub(University of Utah)Ghada Mikhail(Hôpital Antoine-Béclère)Paula Rogers(University of Utah)John Newman(University of Utah)Lisa Wheeler(Institut de Génétique Humaine)Timothy Higenbottam(Institut de Génétique Humaine)J Simon R Gibbs(University of Utah)Jim Egan(Institut de Génétique Humaine)Agnes Crozier(Hôpital Antoine-Béclère)Andrew Peacock(Hôpital Antoine-Béclère)Robert Allcock(University of Utah)Paul Corris(Hôpital Antoine-Béclère)James E Loyd(Hôpital Antoine-Béclère)Richard C Trembath(Institut de Génétique Humaine)William C Nichols(Institut de Génétique Humaine)

View via DOI Full-text PDF

Abstract

The sporadic form of PPH is associated with germline mutations of the gene encoding the receptor protein BMPR-II in at least 26% of cases. A molecular classification of PPH, based upon the presence or absence of BMPR2 mutations, has important implications for patient management and screening of relatives.

Pulmonary Hypertension Research and Treatments Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis Coagulation, Bradykinin, Polyphosphates, and AngioedemaBMPR2BiologyMissense mutationBone morphogenetic protein receptorGeneticsFrameshift mutationGermline mutationExonGermlineMutation

MeSH terms

AdolescentAdultChildCodonDNA Mutational AnalysisExonsFemaleMultigene FamilyGenetic TestingHeterozygoteHumansHypertension, PulmonaryIntronsMaleMiddle Aged