Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms

Circulation

Volumn 94, Issue 11, 1996, Pages 2708-2711

  Milewicz, Dianna M ^a   Michael, Kristi ^a   Fisher, Nancy ^b   Coselli, Joseph S ^c   Markello, Thomas ^d   Biddinger, Alan ^a  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

aneurysm; aorta; genes; genetics; molecular biology

Indexed keywords

FIBRILLIN;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA DETERMINATION; HUMAN; MALE; MARFAN SYNDROME; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DETERMINATION; THORACIC AORTA ANEURYSM;

EID: 0029801012     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.CIR.94.11.2708     Document Type: Article

References (15)

1. Nicod P, Bloor C, Godfrey M, Hollister D, Pyeritz RE, Dittrich H, Polikar R, Peterson KL. Familial aortic dissecting aneurysm. J Am Coll Cardiol. 1989;13:811-819.
2. Francke U, Berg MA, Tynan K, Brenn T, Liu W, Aoyama T, Gasner C, Miller DC, Furthmayr H, A gly 1127 ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. Am J Hum Genet. 1995;56:1287-1296.
3. Pyeritz RE, The Murfun syndrome. In: Royce PM, Steinmann B, eds. Connective Tissue and Its Heritable Disorders. New York, NY: Wiley-Liss & Sons; 1993:437-468.
4. Beighton P, dePaepe A, Danks D, Finidori G, Gedde-Dahl T, Goodman R, Hall JG, Hollister DW, Horton W, McKusick VA, Opitz JM, Pope FM, Pyeritz RE, Rimoin DL, Sillence D, Spranger JW, Thompson E, Tsipouras P, Viljoen D, Winship I, Young I. International nosology of heritable disorders of connective tissue, Berlin, 1986. Am J Med Genet. 1988;29:581-594.
5. Finkbohner R, Johnston D, Crawford ES, Coselli J, Milewicz DM. The Marfan syndrome: long-term survival and complications following aortic aneurysm repair. Circulation. 1995;91:728-733.
6. Milewicz DM, Pyeritz RE, Crawford ES, Byers PH. Marfan syndrome: defective synthesis, secretion and extracellular matrix formation of fibrillin by cultured dermal fibroblasts. J Clin Invest. 1992;89:79-86.
7. Nijbroek G, Sood S, McIntosh I, Francomano CA, Bull E, Pereira L, Ramirez F, Pyeritz RE, Dietz HC. Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. Am J Hum Genet. 1995;57:8-21.
8. Putnam EA, Zhang H, Ramirez F, Milewicz DM. Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractual arachnodactyly. Nat Genet. 1995;11:456-458.
9. Corson GM, Chalberg SC, Dietz HC, Charbonneau NL, Sakai LY. Fibrillin hinds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5′ end. Genomics. 1993;17:476-484.
10. Selander-Sunnerhagen M, Ullner M, Persson E, Teleman O, Stenflo J, Drakenberg T. How an epidermal growth factor (EGF)-like domain binds calcium. J Biol Chem. 1992;267:19642-19649.
11. 2+ -binding epidermal growth factor-like domain: its role in protein-protein interactions. Cell. 1995;82:131-141.
12. Pereira L, D'Alessio M, Ramirez F, Lynch J, Sykes B, Pangilinan T, Bonadio J. Genomic organization of the sequence coding for fibrillin. the defective gene product in Marfan syndrome. Hum Mol Genet. 1993;2:961-968.
13. Handford PA, Mayhew M, Baron M, Winship PR, Campbell ID, Brownlee GG. Key residues involved in calcium-binding motifs in EGF-like domains. Nature. 1991;351:164-167.
14. Rees DJG, Jones IM, Handford PA, Walter SJ, Esnouf KJ, Brownlee GG. The role of B-hydroxyaspartate and adjacent carboxylate residues in the first EGF domain of human factor IX. EMBO J. 1988;7:2053-2061.
15. Aoyama T, Tynan K, Dietz HC, Francke U, Furthmayr H. Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome. Hum Mol Genet. 1993;2:2135-2140.