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Bone Morphogenetic Protein Receptor 2 Mutations in Pulmonary Hypertension*

Jane H. Morse, MD
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*From the Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY.

Correspondence to: Jane H. Morse, MD, Department of Medicine, Columbia-Presbyterian Medical Center, PH 8 East, Suite 101, 630 West 168th St, New York, NY 10032



Chest. 2002;121(3_suppl):50S-53S. doi:10.1378/chest.121.3_suppl.50S
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This presentation on the genetic aspects of primary pulmonary hypertension (PPH) concentrates on our experience at Columbia University and also includes brief summaries of unpublished observations on risk factors for PPH. Familial PPH (FPPH), is inherited as an autosomal dominant with incomplete penetrance.13 Sporadic PPH occurs in one to two cases per million; the familial form occurs in 6% of the 187 cases in the National Institutes of Health registry.4 Microsatellite marker studies followed by linkage analyses localized a gene for the FPPH to chromosome 2q31-3223 and was designated PPH1.2 Subsequently, PPH1 was finely mapped to a more telomeric 3-centimorgan region at 2q33.5 The existence of other PPH loci was not systematically excluded. The two original gene scans applied ≤ 220 autosomal on fewer than eight families (one family shared). A German group, whose presentation follows, finds that stress echocardiograms may identify a second chromosomal locus, more centromeric to PPH1 but within the original approximately 25-centimorgan PPH1 locus, which they call PPH2.

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