Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension

Thorax

Volumn 59, Issue 5, 2004, Pages 446-448

  Chaouat, A ^a   Coulet, F ^b   Favre, C ^a   Simonneau, G ^b   Weitzenblum, E ^a   Soubrier, F ^b   Humbert, M ^b  

^a HÔPITAL DE HAUTEPIERRE   (France)

^b ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DEXFENFLURAMINE; ENDOGLIN; PROSTACYCLIN; TRANSFORMING GROWTH FACTOR BETA;

ADULT; ARTICLE; CASE REPORT; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GERM LINE; HUMAN; PRIORITY JOURNAL; PULMONARY HYPERTENSION; RENDU OSLER WEBER DISEASE; SIGNAL TRANSDUCTION;

ADULT; ANTIGENS, CD; DEXFENFLURAMINE; FEMALE; GENE DELETION; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; HYPERTENSION, PULMONARY; PEDIGREE; RECEPTORS, CELL SURFACE; SEROTONIN AGONISTS; TELANGIECTASIA, HEREDITARY HEMORRHAGIC; VASCULAR CELL ADHESION MOLECULE-1;

EID: 2442519516     PISSN: 00406376     EISSN: None     Source Type: Journal    
DOI: 10.1136/thx.2003.11890     Document Type: Article

References (16)

1. Rubin LJ. Primary pulmonary hypertension. N Engl J Med 1997;336:111-7.
2. Lane KB, Machado RD, Pauciulo MW, et al. Heterozygous germline mutations in a TGF-beta receptor, BMPR2, are the cause of familial primary pulmonary hypertension. The International PPH Consortium. Nat Genet 2000;26:81-4.
3. Deng Z, Morse JH, Slager SL, et al. Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. Am J Hum Genet 2000;67:737-44.
4. Thomson JR, Machado RD, Pauciulo MW, et al. Sporadic primary pulmonary hypertension id associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. J Med Genet 2000;37:741-5.
5. Trembath R, Thomson JR, Machado RD, et al. Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. N Engl J Med 2001;345:325-34.
6. Abenhaim L, Moride Y, Brenot F, et al. Appetite-suppressant drugs and the risk of primary pulmonary hypertension. N Engl J Med 1996;335:609-16.
7. Humbert M, Deng Z, Simonneau G, et al. BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. Eur Respir J 2002;20:518-23.
8. Shovlin CL, Letarte M. Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms. Thorax 1999;54:714-29.
9. Attisano L, Carcamo J, Ventura F, et al. Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors. Cell 1993;75:671-80.
10. McAllister KA, Grogg KM, Johnson DW, et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994;8:345-51.
11. Barbara NP, Wrana JL, Letarte M. Endoglin is an accessory protein that interacts with the signaling receptor complex of multiple members of the transforming growth factor-beta superfamily. J Biol Chem 1999;274:584-94.
12. Pece-Barbara N, Cymerman U, Vera S, et al. Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1. Hum Mol Genet 1999;8:2171-81.
13. Morrell NW, Yang X, Upton PD, et al. Altered growth responses of pulmonary artery smooth muscle cells from patients with primary pulmonary hypertension to transforming growth factor-beta[1] and bone morphogenetic proteins. Circulation 2001;104:790-5.
14. Eddahibi S, Humbert M, Fadel E, et al. Serotonin transporter overexpression is responsible for pulmonary artery smooth muscle hyperplasia in primary pulmonary hypertension. J Clin Invest 2001;108:1141-50.
15. Archer S, Rich S. Primary pulmonary hypertension. A vascular biology and translational research "work in progress". Circulation 2000;102:2781-91.
16. Du L, Sullivan CC, Chu D, et al. Signaling molecules in nonfamilial pulmonary hypertension. N Engl J Med 2003;348:500-9.