A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4)

Lancet

Volumn 363, Issue 9412, 2004, Pages 852-859

  Gallione, Carol J ^a   Repetto, Gabriela M ^b   Legius, Eric ^c   Rustgi, Anil K ^e   Schelley, Susan L ^f   Tejpar, Sabine ^d   Mitchell, Grant ^g   Drouin, Éric ^g   Westermann, Cornelius J J ^h   Marchuk, Douglas A ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b UNIVERSIDAD DEL DESARROLLO   (Chile)

^c CENTER FOR HUMAN GENETICS   (Belgium)

^d UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

^f STANFORD UNIVERSITY   (United States)

^g UNIVERSITY OF MONTREAL   (Canada)

^h ST ANTONIUS HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ENDOGLIN; SMAD4 PROTEIN;

ACVRL1 GENE; ARTERIOVENOUS MALFORMATION; ARTICLE; BLOOD SAMPLING; CONTROLLED STUDY; DNA SEQUENCE; ENG GENE; FAMILIAL DISEASE; GENE; GENE MUTATION; GENETIC CODE; GENETIC SCREENING; HUMAN; JUVENILE POLYP; MADH4 GENE; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL; RENDU OSLER WEBER DISEASE; SEQUENCE ANALYSIS; VISCERA;

EID: 12144286738     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(04)15732-2     Document Type: Article

References (31)

1. Coffin C.M., Dehner L.P. What is a juvenile polyp? An analysis based on 21 patients with solitary and multiple polyps. Arch Pathol Lab Med. 120:1996;1032-1038.
2. Howe J.R., Roth S., Ringold J.C., et al. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science. 280:1998;1086-1088.
3. Howe J.R., Bair J.L., Sayed M.G., et al. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nat Genet. 28:2001;184-187.
4. McAllister K.A., Grogg K.M., Johnson D.W., et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet. 8:1994;345-351.
5. Johnson D.W., Berg J.N., Baldwin M.A., et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet. 13:1996;189-195.
6. Cox K.L., Frates R.C. Jr, Wong A., Gandhi G. Hereditary generalized juvenile polyposis associated with pulmonary arteriovenous malformation. Gastroenterology. 78:1980;1566-1570.
7. Conte WJ, Rotter JI, Schwartz AG, Congleton JE. Hereditary generalized juvenile polyposis, arteriovenous malformations and colonic carcinoma. Clin Res 1982; 30: 93A (abstr).
8. Baert A.L., Casteels-Van Daele M., Broeckx J., Wijndaele L., Wilms G., Eggermont E. Generalized juvenile polyposis with pulmonary arteriovenous malformations and hypertrophic osteoarthropathy. AJR Am J Roentgenol. 141:1983;661-662.
9. Prieto G., Polanco I., Sarria J., Larrauri J., Lassaletta L. Association of juvenile and adenomatous polyposis with pulmonary arteriovenous malformation and hypertrophic osteoarthropathy. J Pediatr Gastroenterol Nutr. 11:1990;133-137.
10. Radin D.R. Hereditary generalized juvenile polyposis: association with arteriovenous malformations and risk of malignancy. Abdom Imaging. 19:1994;140-142.
11. Schumacher B., Frieling T., Borchard F., Hengels K.J. Hereditary hemorrhagic telangiectasia associated with multiple pulmonary arteriovenous malformations and juvenile polyposis. Z Gastroenterol. 32:1994;105-108.
12. Desai D.C., Murday V., Phillips R.K., Neale K.F., Milla P., Hodgson S.V. A survey of phenotypic features in juvenile polyposis. J Med Genet. 35:1998;476-481.
13. Inoue S., Matsumoto T., Iida M., et al. Juvenile polyposis occurring in hereditary hemorrhagic telangiectasia. Am J Med Sci. 317:1999;59-62.
14. Roth S., Sistonen P., Salovaara R., et al. SMAD genes in juvenile polyposis. Genes Chromosomes Cancer. 26:1999;54-61.
15. Ballauff A., Koletzko S. Hereditary hemorrhagic telangiectasia with juvenile polyposis: coincidence or linked autosomal dominant inheritance? Z Gastroenterol. 37:1999;385-388.
16. Burger B., Uhlhaas S., Mangold E., et al. Novel de novo mutation of MADH4/SMAD4 in a patient with juvenile polyposis. Am J Med Genet. 110:2002;289-291.
17. Jass J.R., Williams C.B., Bussey H.J., Morson B.C. Juvenile polyposis: a precancerous condition. Histopathology. 13:1988;619-630.
18. Shovlin C.L., Guttmacher A.E., Buscarini E., et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. 91:2000;66-67.
19. Begbie M.E., Wallace G.M., Shovlin C.L. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century. Postgrad Med J. 79:2003;18-24.
20. Simpson E.L., Dalinka M.K. Association of hypertrophic osteoarthropathy with gastrointestinal polyposis. AJR Am J Roentgenol. 144:1985;983-984.
21. Erkul P.E., Ariyurek O.M., Altinok D., Bakkaloglu A., Kotiloglu E. Colonic hamartomatous polyposis associated with hypertrophic osteoarthropathy. Pediatr Radiol. 24:1994;145-146.
22. Berg J., Porteous M., Reinhardt D., et al. Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. J Med Genet. 40:2003;585-590.
23. Goumans M.J., Valdimarsdottir G., Itoh S., Rosendahl A., Sideras P., ten Dijke P. Balancing the activation state of the endothelium via two distinct TGF-beta type I receptors. EMBO J. 21:2002;1743-1753.
24. Marchuk D.A., Srinivasan S., Squire T.L., Zawistowski J.S. Vascular morphogenesis: tales of two syndromes. Hum Mol Genet. 12:(suppl 1):2003;R97-112.
25. Waite K.A., Eng C. From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family. Nat Rev Genet. 4:2003;763-773.
26. Massague J. How cells read TGF-beta signals. Nat Rev Mol Cell Biol. 1:2000;169-178.
27. Hocevar B.A., Brown T.L., Howe P.H. TGF-beta induces fibronectin synthesis through a c-Jun N-terminal kinase-dependent, Smad4-independent pathway. EMBO J. 18:1999;1345-1356.
28. Sano Y., Harada J., Tashiro S., Gotoh-Mandeville R., Maekawa T., Ishii S. ATF-2 is a common nuclear target of Smad and TAK1 pathways in transforming growth factor-beta signaling. J Biol Chem. 274:1999;8949-8957.
29. Hanafusa H., Ninomiya-Tsuji J., Masuyama N., et al. Involvement of the p38 mitogen-activated protein kinase pathway in transforming growth factor-beta-induced gene expression. J Biol Chem. 274:1999;27161-27167.
30. Sirard C., de la Pompa J.L., Elia A., et al. The tumor suppressor gene Smad4/Dpc4 is required for gastrulation and later for anterior development of the mouse embryo. Genes Dev. 12:1998;107-119.
31. Shi Y., Hata A., Lo R.S., Massague J., Pavletich N.P. A structural basis for mutational inactivation of the tumour suppressor Smad4. Nature. 388:1997;87-93.