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Pulmonary Hypertension in Scleroderma Spectrum of Disease: Lack of Bone Morphogenetic Protein Receptor 2 Mutations JANE MORSE, ROBYN BARST, EVELYN HORN, NIEVES CUERVO, ZEMIN DENG, and JAMES KNOWLES
ABSTRACT. 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. (J Rheumatol 2002;29:2379-81) Key Indexing Terms:
SYSTEMIC SCLEROSIS From the Departments of Medicine, Pediatric Cardiology, and Psychiatry, Columbia University College of Physicians and Surgeons, and the New York State Psychiatric Institute, New York, New York, USA. Supported by NIH-HBLI 60056. J. Morse, MD, Professor Emerita, Division of Rheumatology, Department of Medicine; R. Barst, MD, Professor, Division of Pediatric Cardiology; E. Horn, MD, Associate Professor, Division of Circulatory Physiology, Columbia University; N. Cuervo, MD, Research Fellow; Z. Deng, PhD, Research Associate; J. Knowles, MD, PhD, Associate Professor, Department of Psychiatry, Columbia University and the New York State Psychiatric Institute. Address reprint requests to Dr. J.H. Morse, Department of Medicine, Columbia Presbyterian Medical Center, PH 8 East, Suite 101, 630 West 168th St., New York, NY 10032. E-mail: jhm4@columbia.edu Submitted January 7, 2002; revision accepted May 28, 2002.
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