RT Journal Article
SR Electronic
T1 Pulmonary hypertension in scleroderma spectrum of disease: lack of bone morphogenetic protein receptor 2 mutations.
JF The Journal of Rheumatology
JO J Rheumatol
FD The Journal of Rheumatology
SP 2379
OP 2381
VO 29
IS 11
A1 Morse, Jane
A1 Barst, Robyn
A1 Horn, Evelyn
A1 Cuervo, Nieves
A1 Deng, Zemin
A1 Knowles, James
YR 2002
UL http://www.jrheum.org/content/29/11/2379.abstract
AB 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.