Alport's syndrome: Hereditary mutations in the tye IV collagen family;Syndrome d'Alport, une maladie hereditaire du collagene de type IV

Medecine/Sciences

Volumn 13, Issue 1, 1997, Pages 28-36

  Heidet, Laurence ^a   Forestier, Lionel ^a   Antignac, Corinne ^a   Gubler, Marie Claire ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4;

ALPORT SYNDROME; ARTICLE; CHROMOSOME 2; CHROMOSOME XQ; COLLAGEN DISEASE; DELETION MUTANT; GENE MUTATION; GLOMERULUS BASEMENT MEMBRANE; HEMATURIA; HUMAN; LEIOMYOMATOSIS; NEPHRITIS; PERCEPTION DEAFNESS; THROMBOCYTOPENIA;

GLOMERULUS;

EID: 0031039618     PISSN: 07670974     EISSN: None     Source Type: Journal    
DOI: 10.4267/10608/297     Document Type: Article

References (34)

1. Alport AC. Hereditary familial congenital haemorrhagic nephritis. Br Med J 1927; 1: 504-6.
2. Atkin CL, Gregory MC, Border WA. Alport syndrome. In: Schrier RW, Gottschalk CW, eds. Diseases of the kidney. Boston: Little Brown, 1988: 617-41.
3. Gubler MC, Antignac C, Deschênes G, Knebelmann B, Hors-Cayla MC, Grünfeld JP, Broyer M, Habib R. Hétérogénéité génétique, clinique et morphologique dans le syndrome d Alport. In: FuncK-Brentano JL, Bach JF, Kreis H, Grünfeld JP, eds. Actualités Néphrologiques 1992. Paris: Flammarion, 1992: 15-33.
4. Hinglais N, Grünfeld JP, Bois E. Characteristic ultrastructural lesion of the glomerular lesion of the glomerular basement membrane in progressive hereditary nephritis (Alport's syndrome). Lab Invest 1972; 27: 473-87.
5. Spear GS, Slusser RJ. Alport's syndrome: emphasizing electron microscopic studies of the glomerulus. Am J Pathol 1972; 69: 213-24.
6. McCoy RC, Johnson KH, Stone WJ, Wilson CB. Variation in glomerular basement membrane antigen in hereditary nephritis (abstract). Lab Invest 1976; 34: 325-6.
7. Timpl R. Structure and biological activity of basement membrane proteins. Eur J Biochem 1989; 180: 487-502.
8. Van der Rest M. Biologie du collagène et maladies héréditaires de Ta matrice extracellulaire. Med Sci 1987; 3: 411-20.
9. Giry-Lozinguez C, Kleman J, Van der Rest M. Interactions moléculaires et modularité des protéines au sein des matrices extracellulaires. Med Sci 1994; 10: 1234-43.
10. Wieslander J, Barr JF, Butkowski R, Edwards SJ, Bygren P, Heinegard D, Hudson BG. Goodpasture antigen of the glomerular basement membrane. localization to noncollagenous regions of type IV collagen. Proc Natl Acad Sci USA 1984; 81: 3838-42.
11. Butkowski RJ, Langeveld JPM, Wieslander J, Hamilton J, Hudson BG. Localization of the Goodpasture epitope to a novel chain of basement membrane collagen. J Biol Chem 1987; 262: 7874-7.
12. Kashtan C, Fish AJ, Kleppel M, Yoshioka K, Michael AF. Nephritogenic antigen determinants in epidermal and renal basement membranes of kindreds with Alport-type familial nephritis. J Clin Invest 1986; 78: 1035-44.
13. Atkin CL, Hasstedt SJ, Menlove L, Cannon L, Kirschner N, Schwartz C, Nguyen K, Skolnick MH. Mapping of Alport syndrome to the long arm of the X chromosome. Am J Hum Genet 1988; 42: 249-55.
14. Hostikka SL, Eddy RL, Byers MG, Hoyhtya M, Shows TB, Tryggvason K. Identification of a distinct type IV collagen a chain with restricted kidney distribution and assignment of its gene to the locus of X-linked Alport syndrome. Proc Natl Acad Sci USA 1990; 87: 1606-10.
15. Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL, Tryggvason K. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 1990; 247: 1224-7.
16. Heikkilä P, Soininen R. The type IV collagen family. In: Tryggvason K, ed. Molecular pathology and genetics of Alport syndrome. Basel: Karger, 1996: 105-29.
17. Tryggvason K, Zhou J, Hostikka SL, Shows TB. Molecular genetics of Alport syndrome. Kidney Int 1990; 43: 38-44.
18. Antignac C, Knebelmann B, Drouot L, Gros F, Deschênes G, Hors-Cayla MC, Zhou J, Tryggvason K, Grünfeld JP, Broyer M, Gubler MC. Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression. J Clin Invest 1994; 93: 1195-207.
19. Renieri A, Bruttini M, Galli L, Zanelli P, Neri T, Rossetti S, Turco A, Heiskari N, Zhou J, Gusmano R, Massella L, Banfi G, Scolari F, Sessa A, Rizzoni G, Tryggvason K, Pignatti PF, Savi M, Ballabio A, De Marchi M. X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. Am J Hum Genet 1996; 58: 1192-204.
20. Knebelmann B, Breillat C, Forestier L, Arrondel C, Jacassier D, Giatras I, Drouot L, Deschênes G, Grünfeld JP, Broyer M, Gubler MC, Antignac C. Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome. Am J Hum Genet 1996; 59: 1221-32.
21. Naylor J, Brinke A, Hassock S, Green PM, Gianelli F. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum Mol Genet 1993; 2: 1773-8.
22. Koenig M, Campuzano V, Cossée M, Mandel J. Ataxie de Friedreich: les expansions de triplets frappent encore. Med Sci 1996; 12: 431-5.
23. Kashtan CE, Kleppel MM, Gubler MC. Immunohistochemical findings in Alport syndrome. In: Tryggvason K, ed. Molecular pathology and genetics of Alport syndrome. Basel: Karger, 1996: 142-53.
24. Nakanishi K, Yoskikawa N, Iijima K, Nakamura H. Expression of Type IV collagen α3 and α4 chain mRNA in X-linked Alport syndrome. J Am Soc Nephrol 1996; 7: 938-45.
25. Naito I, Shinichiro K, Nomura S, Sado Y, Osawa G, and the Japanese Alport Network. Relationship between COL4A5 gene mutation and distribution of type IV collagen in male X-linked Alport syndrome. Kidney Int 1996; 50: 304-12.
26. Thorner P, Jansen B, Baumal R, Valli VEO, Goldberger A. Samoyed hereditary glomerulopathy. Lab Invest 1987; 56: 435-43.
27. Zheng K, Thorner PS, Marrano P, Baumal R, McInnes RR. Canine X chromosome-linked hereditary nephritis: a genetic model for human X-linked hereditary nephritis resulting from a single base mutation in the gene encoding the α5 chain of collagen type IV. Proc Natl Acad Sci USA 1994; 91: 3989-93.
28. Thorner PS, Zheng K, Kalluri R, Jacobs R, Hudson BG. Coordinate gene expression of the α3, α4, and α5 chains of collagen type IV. J Biol Chem 1996; 271: 13821-8.
29. Gubler MC, Knebelmann B, Beziau A, Broyer M, Pirson Y, Haddoum F, Kleppel MM, Antignac C. Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution. Kidney Int 1995; 47: 1142-7.
30. Antignac C, Zhou J, Sanak M, Cochat P, Roussel B, Deschênes G, Gros F, Knebelmann B, Hors-Cayla MC, Tryggvason K, Gubler MC. Alport syndrome and diffuse leiomyomatosis: deletions in the 5' end of the COL4A5 collagen gene. Kidney Int 1992; 42: 1178-83.
31. Zhou J, Mochizuki T, Smeets H, Antignac C, Laurila P, de Paepe, A, Tryggvason K, Reeders ST. Deletion of the paired α5(IV) and α6(IV) collagen genes in inherited smooth muscle tumors. Science 1993; 261: 1167-9.
32. Heidet L, Dahan K, Zhou J, Xu Z, Cochat P, Gould JDM, Leppig KA, Proesmans W, Guyot C, Guillot M, Roussel B, Tryggvason K, Grünfeld JP, Gubler, MC, Antignac C. Deletions of both α5(IV) and α6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours. Hum Mol Genet 1995; 4: 99-108.
33. Dahan K, Heidet L, Zhou J, Mettler G, Leppig KA, Proesmans W, David A, Roussel B, Mongeau JG, Gould JMD, Grünfeld JP, Gubler MC, Antignac C. Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females. Kidney Int 1995; 48: 1900-6.
34. Schoenmakers E, Wanschura S, Mols R, Bullerdiek J, Van den Berghe H, Van de Ven WJM. Recurrent rearrangements in the high mobility group protein gene, HMGI-C, in benign mesenchymal tumours. Nature Genet 1995; 10: 436-43.