OBJECTIVE: To determine whether mutations in the bone morphogenetic protein receptor 2 gene (BMPR2), initially reported in primary pulmonary hypertension, were present in patients with pulmonary arterial hypertension and scleroderma spectrum of disease. Methods. BMPR2 gene mutations were determined using nucleic acid sequencing in 24 patients with pulmonary arterial hypertension and scleroderma spectrum of disease and in 2 control groups, 96 healthy North American individuals and 100 Israeli Ashkenazi Jews. The patients also had antinuclear antibody determinations and underwent right heart catheterization. RESULTS: One BMPR2 guanine to adenine (G to A) mutation in exon 13 was found in a 59-year-old Ashkenazi Jewish woman with the limited cutaneous variant, a normal chest radiograph, and positive anticentromere and rheumatoid factor autoantibodies. However, this mutation is thought to be a polymorphism because the same mutation was also found in an ethnically matched healthy Ashkenazi Jew. CONCLUSION: Pulmonary arterial hypertension in scleroderma spectrum of disease was not associated with heterogeneous germline mutations of BMPR2.
OBJECTIVE: To determine whether mutations in the bone morphogenetic protein receptor 2 gene (BMPR2), initially reported in primary pulmonary hypertension, were present in patients with pulmonary arterial hypertension and scleroderma spectrum of disease. Methods. BMPR2 gene mutations were determined using nucleic acid sequencing in 24 patients with pulmonary arterial hypertension and scleroderma spectrum of disease and in 2 control groups, 96 healthy North American individuals and 100 Israeli Ashkenazi Jews. The patients also had antinuclear antibody determinations and underwent right heart catheterization. RESULTS: One BMPR2guanine to adenine (G to A) mutation in exon 13 was found in a 59-year-old Ashkenazi Jewish woman with the limited cutaneous variant, a normal chest radiograph, and positive anticentromere and rheumatoid factor autoantibodies. However, this mutation is thought to be a polymorphism because the same mutation was also found in an ethnically matched healthy Ashkenazi Jew. CONCLUSION:Pulmonary arterial hypertension in scleroderma spectrum of disease was not associated with heterogeneous germline mutations of BMPR2.
Authors: Todd M Bull; Christina A Meadows; Christopher D Coldren; Mark Moore; Sylk M Sotto-Santiago; Serge P Nana-Sinkam; Thomas B Campbell; Mark W Geraci Journal: Am J Respir Cell Mol Biol Date: 2008-06-27 Impact factor: 6.914
Authors: Edward A Pankey; Matthew Epps; Bobby D Nossaman; Albert L Hyman; Philip J Kadowitz Journal: J Clin Rheumatol Musculoskelet Med Date: 2010-12-01
Authors: Angela Ghatnekar; Izabela Chrobak; Charlie Reese; Lukasz Stawski; Francesca Seta; Elaine Wirrig; Jesus Paez-Cortez; Margaret Markiewicz; Yoshihide Asano; Russell Harley; Richard Silver; Carol Feghali-Bostwick; Maria Trojanowska Journal: Am J Pathol Date: 2013-04-11 Impact factor: 4.307