Published ahead of print on November 21, 2002, doi:10.1164/rccm.200208-861OC
Am. J. Respir. Crit. Care Med., Volume 167, Number 6, March 2003, 889-894
A more recent version of this article appeared on March 15, 2003
Submitted on August 14, 2002
Accepted on November 19, 2002
PULMONARY VENO-OCCLUSIVE DISEASE CAUSED BY AN INHERITED MUTATION IN BMPR2
James R Runo1*, Cindy L Vnencak-Jones2, Melissa Prince3, James E Loyd1, Lisa Wheeler1, Ivan M Robbins1, Kirk B Lane1, John H Newman1, Joyce Johnson4, William C Nichols5, and John A Phillips3
1 Division of Allergy, Pulmonary and Critical Care Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA,
2 Department of Pathology, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Pediatrics and Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA,
3 Department of Pediatrics and Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA,
4 Department of Pathology, Vanderbilt University Medical Center, Nashville, TN, USA,
5 Division of Human Genetics, Children's Hospital Medical Center, Cincinnati, OH, USA
* To whom correspondence should be addressed. E-mail: james.runo{at}mcmail.vanderbilt.edu.
Pulmonary veno-occlusive disease is a rare form of pulmonary hypertension in which the vascular changes originate in the small pulmonary veins and venules. The pathogenesis is unknown and any link with primary pulmonary hypertension (PPH) has been speculative. Mutations in the bone morphogenetic protein receptor II (BMPR2) gene have been identified in at least 50% of familial cases and in 25% of sporadic cases of PPH. We report a patient with documented pulmonary veno-occlusive disease whose mother had severe pulmonary hypertension. Sequencing of the patient's BMPR2 coding region revealed a del44C mutation in exon 1 which is predicted to encode for a truncated protein. Analysis of DNA from family members suggests that this mutation was transmitted by the proband's mother to two of her four children. The finding of pulmonary veno-occlusive disease associated with a BMPR2 mutation reveals a possible pathogenetic connection with PPH.
Key words: primary pulmonary hypertension, pulmonary hypertension, pulmonary veno-occlusive disease, genetic mutation, bone morphogenetic protein receptor II
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