Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome

American Journal of Human Genetics

Volumn 63, Issue 6, 1998, Pages 1703-1711

  Montgomery, Robert A ^a   Geraghty, Michael T ^a   Bull, Evelyn ^a   Gelb, Bruce D ^b   Johnson, Maureen ^c,e   McIntosh, Iain ^a   Francomano, Clair A ^c   Dietz, Harry C ^a,d  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d JOHNS HOPKINS HOSPITAL   (United States)

^e NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN;

ARTICLE; GENE MUTATION; GENETIC COUNSELING; GENETIC HETEROGENEITY; HUMAN; MARFAN SYNDROME; MOSAICISM; PATIENT COUNSELING; PRIORITY JOURNAL; PROGNOSIS; PROTEIN EXPRESSION;

EID: 0032470854     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302144     Document Type: Article

References (29)

1. Aoyama T, Francke U, Dietz HC, Furthmayr H (1994) Quantitative differences in biosynthesis and extracellular deposition of fibrillin cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms. J Clin Invest 94:130-137
2. Beighton P, De Paepe A, Danks D, Finidori G, Gedde-Dahl T, Goodman R, Hall JG, et al. (1988) International nosology of heritable disorders of connective tissue. Am J Med Genet 29:581-594
3. Corson GM, Chalberg SC, Dietz HC, Charbonneau N, Sakai LY (1993) Fibrillin binds calcium and is encoded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5′ end. Genomics 17:476-484
4. De Paepe A, Devereux RB, Dietz HC, Hennekam RCM, Pyeritz RE (1996) Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 62:417-426
5. Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, et al. (1991) Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352:337-359
6. Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyeritz RE, Francomano CA (1993a) Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics 17:468-475
7. Dietz HC, Pyeritz RE (1995) Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet 4:1799-1809
8. Dietz HC, Pyeritz RE, Puffenberger EG, Kendzior RJ, Corson GM, Maslen CL, Sakai LY, et al. (1992) Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. J Clin Invest 89:1674-1680
9. Dietz HC, Valle D, Francomano CA, Kendzior RJ Jr, Pyeritz RE, Cutting GR (1993b) The skipping of constitutive exons in vivo induced by nonsense mutations. Science 259: 680-683
10. Downing AK, Knott V, Werner JM, Cardy CM, Campbell ID, Handford PA (1996) Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders. Cell 85:597-605
11. Eldadah ZA, Brenn T, Furthmayr H, Dietz HC (1995) Expression of a mutant fibrillin (FBN1) allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype. J Clin Invest 95:874-880
12. Handford PA, Mayhew M, Baron M, Winship PR, Campbell ID, Brownlee GG (1991) Key residues involved in calcium binding motifs in EGF-like domains. Nature 351:164-167
13. Hayward C, Porteous ME, Brock DJ (1994) A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly. Mol Cell Probes 8:325-327
14. Kielty CM, Shuttleworth CA (1993) The role of calcium in the organization of fibrillin microfibrils. FEBS Lett 336: P323-326
15. _ (1994) Abnormal fibrillin assembly by dermal fibroblasts from two patients with Marfan syndrome. J Cell Biol 124:997-1004
16. Knott V, Downing AK, Cardy CM, Handford P (1996) Calcium binding properties of an epidermal growth factor-like domain pair from human fibrillin-1. J Mol Biol 255:22-27
17. Maquat LE (1995) When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells. RNA 1:453-465
18. Nijbroek G, Sood S, McIntosh I, Francomano CA, Bull E, Pereira L, Ramirez F, et al. (1995) Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. Am J Hum Genet 57:8-21
19. Pereira L, Andrikopoulos K, Tian J, Lee S-Y, Keene DR, Ono R, Reinhardt DP, et al. (1997) Targeting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Nat Genet 17:218-222
20. Pereira L, D'Alessio M, Ramirez F, Lynch JR, Sykes B, Pangilinan T, Bonadio J (1993) Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. Hum Mol Genet 2:961-968
21. Pereira L, Levra O, Ramirez F, Lynch JR, Sykes B, Pyeritz RE, Dietz HC (1994) A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome. N Engl J Med 331:148-153
22. Pyeritz RE (1993) The Marfan syndrome. In: Royce PM, Steinmann B (eds) Connective tissue and its heritable disorders: molecular, genetic and medical aspects. Wiley-Liss, New York, pp 437-468
23. Reinhardt DP, Mechling DE, Boswell BA, Keene DR, Sakai LY, Bachinger HP (1997a) Calcium determines the shape of fibrillin. J Biol Chem 272:7368-7373
24. Reinhardt DP, Ono RN, Sakai LY (1997b) Calcium stabilizes fibrillin-1 against proteolytic degradation. J Biol Chem 272: 1231-1237
25. Sakai LY, Keene DR, Engvall E (1986) Fibrillin, a new 350-kD glycoprotein is a component of extracellular microfibrils. J Cell Biol 103:2499-2509
26. Selander-Sunnerhagen M, Ullner M, Persson E, Teleman O, Stenflo J, Drakenberg T (1992) How an epidermal growth factor (EGF)-like domain binds calcium. J Biol Chem 267: 19642-19649
27. Tilstra DJ, Li L, Potter KA, Womack J, Byers PH (1994) Sequence of the coding region of the bovine fibrillin cDNA and localization to bovine chromosome 10. Genomics 23: 480-485
28. Wu Y-S, Bevilacqua VLH, Berg JM (1995) Fibrillin domain folding and calcium binding: significance to Marfan syndrome. Chem Biol 2:91-97
29. Yin W, Smiley E, Germiller J, Sanguineti C, Lawton T, Pereira L, Ramirez F, et al. (1995) Primary structure and developmental expression of Fbn-1, the mouse fibrillin gene. J Biol Chem 270:1798-1806