No live individual homozygous for a novel endoglin mutation was found in a consanguineous Arab family with hereditary haemorrhagic telangiectasia

Journal of Medical Genetics

Volumn 41, Issue 11, 2004, Pages

  Karabegovic, A ^a   Shinawi, M ^b   Cymerman, U ^a   Letarte, M ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELL SURFACE RECEPTOR; ENG PROTEIN, HUMAN; LEUKOCYTE ANTIGEN; VASCULAR CELL ADHESION MOLECULE 1;

ADULT; ARAB; ARTICLE; CHILD; CONSANGUINITY; ETHNOLOGY; FAMILY HEALTH; FEMALE; FETUS DEATH; GENETICS; HOMOZYGOTE; HUMAN; INFANT; MALE; MIDDLE AGED; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD; RENDU OSLER WEBER DISEASE;

ADULT; ANTIGENS, CD; ARABS; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; FETAL DEATH; HOMOZYGOTE; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PEDIGREE; RECEPTORS, CELL SURFACE; TELANGIECTASIA, HEREDITARY HEMORRHAGIC; VASCULAR CELL ADHESION MOLECULE-1;

EID: 21644474079     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2004.022079     Document Type: Article

References (31)

1. Dakeishi M, Shioya T, Wada Y, Shindo T, Otaka K, Manabe M, Nozaki J, Inoue S, Koizumi A. Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan. Hum Mutat 2002;19(2):140-8.
2. Kjeldsen AD, Vase P, Green A. Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients. J Intern Med 1999;245(1):31-9.
3. Begbie ME, Wallace GM, Shovlin CL. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century. Postgrad Med J 2003;79(927):18-24.
4. Shovlin CL, Letarte M. Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms. Thorax 1999;54(8):714-29.
5. Moussouttas M, Fayad P, Rosenblatt M, Hashimoto M, Pollak J, Henderson K, Ma TY, White RI. Pulmonary arteriovenous malformations: cerebral ischemia and neurologic manifestations. Neurology 2000;55(7):959-64.
6. Berg JN, Gallione CJ, Stenzel TT, Johnson DW, Allen WP, Schwartz CE, Jackson CE, Porteous ME, Marchuk DA. The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. Am J Hum Genet 1997;61(1):60-7.
7. McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, Helmbold EA, Markel DS, McKinnon WC, Murrell J, McCormick MK, Pericak-Vance MA, Heutink P, Oostra BA, Haitjema T, Westerman CJJ, Porteous ME, Guttmacher AE, Letarte M, Marchuk DA. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994;8(4):345-51.
8. Lastella P, Sabba C, Lenato GM, Resta N, Lattanzi W, Gallitelli M, Cirulli A, Guanti G. Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia. Clin Genet 2003;63(6):536-40.
9. Cymerman U, Vera S, Karabegovic A, Abdalla S, Letarte M. Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia. Hum Mutat 2003;21(5):482-92.
10. van den Driesche S, Mummery CL, Westermann CJ. Hereditary hemorrhagic telangiectasia: an update on transforming growth factor beta signaling in vasculogenesis and angiogenesis. Cardiovasc Res 2003;58(1):20-31.
11. Lesca G, Plauchu H, Coulet F, Lefebvre S, Plessis G, Odent S, Riviere S, Leheup B, Goizet C, Carette MF, Cordier JF, Pinson S, Soubrier F, Calender A, Giraud S, French Rendu-Osler Network. Molecular screening of ALK1/ ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Hum Mutat 2004;23(4):289-99.
12. Johnson DW, Berg JN, Gallione CJ, McAllister KA, Warner JP, Helmbold EA, Markel DS, Jackson CE, Porteous ME, Marchuk DA. A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12. Genome Res 1995;5(1):21-8.
13. Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, Stenzel TT, Speer M, Pericak-Vance MA, Diamond A, Guttmacher AE, Jackson CE, Attisano L, Kucherlapati R, Porteous ME, Marchuk DA. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 1996;13(2):189-95.
14. Vincent P, Plauchu H, Hazan J, Faure S, Weissenbach J, Godet J. A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q. Hum Mol Genet 1995;4(5):945-9.
15. Pece N, Vera S, Cymerman U, White RI Jr, Wrana JL, Letarte M. Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative. J Clin Invest 1997;100(10):2568-79.
16. Shovlin CL, Hughes JM, Scott J, Seidman CE, Seidman JG. Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia. Am J Hum Genet 1997;61(1):68-79.
17. Paquet ME, Pece-Barbara N, Vera S, Cymerman U, Karabegovic A, Shovlin C, Letarte M. Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function. Hum Mol Genet 2001;10(13):1347-57.
18. Bourdeau A, Dumont DJ, Letarte M. A murine model of hereditary hemorrhagic telangiectasia. J Clin Invest 1999;104(10):1343-51.
19. Bourdeau A, Faughnan ME, Letarte M. Endoglin-deficient mice, a unique model to study hereditary hemorrhagic telangiectasia. Trends Cardiovasc Med 2000;10(7):279-85.
20. Torsney E, Charlton R, Diamond AG, John Burn, JV Soames, HM Arthur. Mouse model for hereditary hemorrhagic telangiectasia has a generalized vascular abnormality. Circulation 2003;107(12):1653-7.
21. Satomi J, Mount RJ, Toporsian M, Paterson AD, Wallace MC, Harrison RV, Letarte M. Cerebral vascular abnormalities in a murine model of hereditary hemorrhagic telangiectasia. Stroke 2003;34(3):783-9.
22. Srinivasan S, Hanes MA, Dickens T, Porteous ME, Oh SP, Hale LP, Marchuk DA. A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2. Hum Mol Genet 2003;12(5):473-82.
23. Oh SP, Seki T, Goss KA, Imamura T, Yi Y, Donahoe PK, Li L, Miyazono K, ten Dijke P, Kim S, Li E. Activin receptor-like kinase 1 modulates transforming growth factor-beta 1 signaling in the regulation of angiogenesis. Proc Natl Acad Sci U S A 2000;97(6):2626-31.
24. Snyder LH, Doan CA. Is the homozygous form of multiple telangiectasias lethal? J Lab Clin Med 1944;29:1211-6.
25. Muller JY, Michailov T, Izrael V, Bernard J. Maladie de Rendu-Osler dans une grande famille saharienne [Rendu-Osler syndrome in a large Saharan family] (in French). Nouv Presse Med 1978;7(20):1723-5.
26. Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD, Plauchu H. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000;91(1):66-7.
27. Cymerman U, Vera S, Pece-Barbara N, Bourdeau A, White RI Jr, Dunn J, Letarte M. Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin. Pediatr Res 2000;47(1):24-35.
28. Freundlich E, Hino N. Consanguineous marriage among rural Arabs in Israel. Isr J Med Sci 1984;20(11):1035-8.
29. Qu R, Silver MM, Letarte M. Distribution of endoglin in early human development reveals high levels on endocardial cushion tissue mesenchyme during valve formation. Cell Tissue Res 1998;292(2):333-43.
30. Chan NL, Bourdeau A, Vera S, Abdalla S, Gross M, Wong J, Cymerman U, Paterson AD, Mullen B, Letarte M. Umbilical vein and placental vessels from newborns with hereditary haemorrhagic telangiectasia type 1 genotype are normal despite reduced expression of endoglin. Placenta 2004;25(2-3):208-17.
31. St-Jacques S, Forte M, Lye SJ, Letarte M. Localization of endoglin, a transforming growth factor-beta binding protein, and of CD44 and integrins in placenta during the first trimester of pregnancy. Biol Reprod 1994;51(3):405-13.