The COL4A5 gene in Japanese Alport syndrome patients: Spectrum of mutations of all exons

Kidney International

Volumn 49, Issue 3, 1996, Pages 814-822

  Kawai, Shinichiro ^a   Nomura, Shinsuke ^a   Harano, Teruo ^a   Harano, Keiko ^a   Fukushima, Tatsuo ^a   Osawa, Gengo ^a  

^a KAWASAKI MEDICAL SCHOOL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ALPORT SYNDROME; ARTICLE; FEMALE; GENE EXPRESSION; GENE REARRANGEMENT; GENETIC POLYMORPHISM; GENOME; HUMAN; JAPAN; MAJOR CLINICAL STUDY; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

EID: 0029930996     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1038/ki.1996.113     Document Type: Article

References (38)

1. ALPORT AC: Hereditary familial congenital haemorrhagic nephritis. Brit Med J 1:504-506, 1927
2. FLINTER F, CAMERON J, CHANTLER C, HOUSTON I, BOBROW M: Genetics of classic Alport syndrome. Lancet 2:1005-1007, 1988
3. ATKIN CL, GREGORY MC: Alport Syndrome, in Diseases of the Kidney (5th ed), edited by Schrier RW, Gottschalk CW, Boston, Little Brown and Co. 1993, pp 571-591
4. HASSTEDT SJ, ATKIN CL, SAN JAJ: Genetic heterogeneity among kindreds with Alport syndrome. Am J Hum Genet 38:940-953, 1986
5. FEINGOLD J, BOIS E, CHOMPRET A, BROYER M, GUBLER MC, GRUNFELD JP: Genetic heterogeneity of Alport syndrome. Kidney Int 27:672-677, 1985
6. VETRIE D, FLINTER F, BOBROW M, HARRIS A: Construction of a yeast artificial chromosome contig encompassing the human alpha 5(IV) collagen gene (COL4A5). Genomics 14:634-642, 1992
7. ZHOU J, HERTZ JM, LEINONEN A, TRYGGVASON K: Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient. J Biol Chem 267:12475-12481, 1992
8. TRYGGVASON K, ZHOU J, HOSTIKKA SL, SHOWS TB: Molecular genetics of Alport syndrome. Kidney Int 43:38-44, 1993
9. NETZER KO, RENDERS L, ZHOU J, PULLIG O, TRYGGVASON K, WEBER M: Deletions of the COL4A5 gene in patients with Alport syndrome. Kidney Int 42:1336-1344, 1992
10. NOMURA S, OSAWA G, SAI T, HARANO T, HARANO K: A splicing mutation in the alpha 5(IV) collagen gene of a family with Alport's syndrome. Kidney Int 43:1116-1124, 1993
11. BOYE E, VETRIE D, FLINTER F, BUCKLE B, PIHLAJANIEMI T, HAMALAINEN ER, MYERS JC, BOBROW M, HARRIS A: Major rearrangements in the alpha 5(IV) collagen gene in three patients with Alport syndrome. Genomics 11:1125-1132, 1991
12. NAKAZATO H, HATTORI S, MATSUURA T, KOITABASHI Y, ENDO F, MATSUDA I: Identification of a single base insertion in the COL4A5 gene in Alport syndrome. Kidney Int 44:1091-1096, 1993
13. ORITA M, IWAHANA H, KANAZAWA H, HAYASHI K, SEKIYA T: Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86:2766-2770, 1989
14. KINOSHITA Y, OSAWA G, MORITA T, KOBAYASHI N, WADA J: Hereditary chronic nephritis (Alport) complicated by nephrotic syndrome. Light, fluorescent and electronmicroscopic studies of renal biopsy specimens. Acta Med Biol Niigata 17:101-117, 1969
15. PONCZ M, SOLOWIEJCZYK B, HARPEL Y, MORY Y, SCHWARTZ E, SURREY S: Construction of human gene libraries from small amount of peripheral blood. Hemoglobin 6:27-36, 1982
16. ZHOU J, HOSTIKKA SL, CHOW LT, TRYGGVASON K: Characterization of the 3′ half of the human type IV collagen alpha 5 gene that is affected in the Alport syndrome. Genomics 9:1-9, 1991
17. ZHOU J, LEINONEN A, TRYGGVASON K: Structure of the human type IV collagen COL4A5 gene. J Biol Chem 269:6608-6614, 1994
18. SANGER F, KICKLEN S, COULSON AR: DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74:5463-5470, 1977
19. ANTIGNAC C, KNEBELMANN B, DROUOT L, GROS F, DESCHENES G, HORSCAYLA MC, ZHOU J, TRYGGVASON K, GRUNFELD 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 93:1195-1207, 1994
20. BOYE E, FLINTER F, ZHOU J, TRYGGVASON K, BOBROW M, HARRIS A: Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients. Hum Mutat 5:197-204, 1995
21. SAITO A, SAKATSUME M, YAMAZAKI H, OGATA F, HIRASAWA Y, ARAKAWA M: A deletion mutation in the 3′ end of the alpha 5(IV) collagen gene in juvenile-onset Alport syndrome. J Am Soc Nephrol 4:1649-1653, 1994
22. ANTIGNAC C: Molecular genetics of basement membranes: The paradigm of Alport syndrome. Kidney Int 47(Suppl 49):S29-S33, 1995
23. ANTIGNAC C, ZHOU J, SANAK M, COCHAT P, ROUSSEL B, DESCHENES G, GROS F, KNEBELMANN B, HORS CM, TRYGGVASON K, ET AL: Alport syndrome and diffuse leiomyomatosis: Deletions in the 5′ end of the COL4A5 collagen gene. Kidney Int 42:1178-1183, 1992
24. HEIDET L, DAHAN K, ZHOU J, XU Z, COCHAT P, GOULD J, LEPPIG KA, PROESMANS W, GUYOT C, GUILLOT M, ROUSSEL B, TRYGGVASON K, GRUNFELD JP, GUBLER MC, ANTIGNAC C: Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours. Hum Mol Genet 4:99-108, 1995
25. ZHOU J, MOCHIZUKI T, SMEETS H, ANTIGNAC C, LAURILA P, DEPAEPE A, TRYGGVASON K, REEDERS ST: Deletion of the paired alpha-5(IV) and alpha-6(IV) collagen genes in inherited smooth muscle tumors. Science 261:1167-1169, 1993
26. FLINTER F: 3rd International Workshop on Alport Syndrome. Pediatr Nephrol 8:780-782, 1994
27. SAITO A, SAKATSUME M, YAMAZAKI H, ARAKAWA M: Alternative splicing in the alpha 5(IV) collagen gene in human kidney and skin tissues. Jpn J Nephrol 36:19-24, 1994
28. VETRIE D, FLINTER F, BOBROW M, HARRIS A: X inactivation patterns in females with Alport's syndrome: A means of selecting against a deleterious gene? J Med Genet 29:663-666, 1992
29. GUO C, VAN DB, VANRENTERGHEM Y, DEVRIENDT K, CASSIMAN JJ, MARYNEN P: Severe Alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele. J Clin Invest 95:1832-1837, 1995
30. EPSTEIN CJ, SAHUD MA, PIEL CF, GOODMAN JR, BERNFIELD MR, KUSHNER JH, ABLIN AR: Hereditary macrothrombocytopathia, nephritis and deafness. Am J Med 52:299-310, 1972
31. MILLINER DS, PIERIDES AM, HOLLEY KE: Renal transplantation in Alport's syndrome: Anti-glomerular basement membrane glomerulonephritis in the allograft. Mayo Clin Proc 57:35-43, 1982
32. KASHTAN CE, BUTKOWSKI RJ, KLEPPEL MM, FIRST MR, MICHAEL AF: Posttransplant anti-glomerular basement membrane nephritis in related males with Alport syndrome. J Lab Clin Med 116:508-515, 1990
33. HUDSON BG, KALLURI R, GUNWAR S, WEBER M, BALLESTER F, HUDSON JK, NOELKEN ME, SARRAS M, RICHARDSON WR, SAUS J, et al: The pathogenesis of Alport syndrome involves type IV collagen molecules containing the alpha 3(IV) chain: Evidence from anti-GBM nephritis after renal transplantation. Kidney Int 42:179-187, 1992
34. GOVAN J: Ocular manifestations of Alport's syndrome: A hereditary disorder of basement membranes? Br J Ophthalmol 63:493-503, 1983
35. JACOBS M, JEFFREY B, KRISS A, TAYLOR D, SA G, BARRATT TM: Ophthalmologic assessment of young patients with Alport syndrome. Ophthalmology 99:1039-1044, 1992
36. TAKEDA N, FUJITA A, TANAKA M, WADA H: Clinico-pathological study of progressive hereditary nephritis-from a nation-wide survey. J Jpn Pediatr Soc 93:911-917, 1989 (in Japanese)
37. TEEKHASAENEE C, NIMMANIT S, WUTTHIPHAN S, VAREESANGTHIP K, LAOHAPAND T, MALASITR P, RITCH R: Posterior polymorphous dystrophy and Alport syndrome. Ophthalmology 98:1207-1215, 1991
38. URAOKA Y, AKANO N, TOODA M, ISEKI T, MIYAMOTO H, MAKI S: Survey on hereditary nephropathies (Special reference to Alport's syndrome). Jpn J Nephrol 25:1115-1125, 1983