A novel mutation of COL4A3 presents a different contribution to Alport syndrome and thin basement membrane nephropathy

American Journal of Nephrology

Volumn 27, Issue 5, 2007, Pages 538-544

  Hou, Ping ^a   Chen, Yuqing ^a   Ding, Jiaxiang ^a   Li, Guangtao ^a   Zhang, Hong ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

Author keywords

Alport syndrome, autosomal recessive; COL4A3; COL4A4; Mutation detection; Thin basement membrane nephropathy

Indexed keywords

RESTRICTION ENDONUCLEASE;

ADULT; AGED; ALPORT SYNDROME; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASEMENT MEMBRANE NEPHROPATHY; CLINICAL ARTICLE; COL4A3 GENE; COL4A4 GENE; CONTROLLED STUDY; EXON; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC SCREENING; GLOMERULOPATHY; HEMATURIA; HOMOZYGOSITY; HUMAN; KIDNEY DISEASE; MALE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEINURIA; URINALYSIS;

ADENINE; ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; ASPARTIC ACID; AUTOANTIGENS; BASE SEQUENCE; COLLAGEN TYPE IV; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; GLOMERULAR BASEMENT MEMBRANE; GLYCINE; GUANINE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; KIDNEY DISEASES; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MUTATION, MISSENSE; NEPHRITIS, HEREDITARY; PEDIGREE; POLYMORPHISM, GENETIC;

EID: 34748815673     PISSN: 02508095     EISSN: None     Source Type: Journal    
DOI: 10.1159/000107666     Document Type: Article

References (20)

1. Kashtan CE, Michael AF: Alport syndrome. Kidney Int 1996;50:1445-1463.
2. Pirson Y: Nephrology form: making the diagnosis of Alport's syndrome. Kidney Int 1999;56:760-775.
3. Mochizuki T, Lemmink HH, Mariyama M, Antignac C, Gubler MC, Pirson Y, Verellen-Dumoulin C, Chan B, Schroder CH, Smeets HJ, Reeders ST: Identification of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet 1994;8:77-82.
4. Tazon Vega B, Badenas C, Ars E, Lens X, Mila M, Darnell A, Torra R: Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases. Am J Kidney Dis 2003;42:952-959.
5. Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
6. Heidet L, Arrondel C, Forestier L, Cohen-Solal L, Mollet G, Gutierrez B, Stavrou C, Gubler MC, Antignac C: Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. J Am Soc Nephrol 2001;12:97-106.
7. Longo I, Porcedda P, Mari F, Giachino D, Meloni I, Deplano C, Brusco A, Bosio M, Massella L, Lavoratti G, Roccatello D, Frasca G, Mazzucco G, Muda AO, Conti M, Fasciolo F, Arrondel C, Heidet L, Renieri A, De Marchi M: COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport's syndrome. Kidney Int 2002;61:1947-1956.
8. Gubler MC, Knebelmann B, Beziau A, Broyer M, Pirson Y, Haddoum F, Lleppel MM, Antignac C: Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution. Kidney Int 1995;47:1142-1147.
9. Boye E, Mollet G, Forestier L, Cohen-Solal L, Heidet L, Cochat P, Grunfeld JP, Palcoux JB, Gubler MC, Antignac C: Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport's syndrome. Am J Hum Genet 1998;63:1329-1340.
10. Savige J, Rana K, Tonna S, Buzza M, Dagher H, Wang YY: Thin basement membrane nephropathy. Kidney Int 2003;64:1169-1178.
11. Badenas C, Praga M, Tazon B, Heidet L, Arrondel C, Armengol A, Andres A, Morales E, Camacho JA, Lens X, Davila S, Mila M, Antignac C, Darnell A, Torra R: Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria. J Am Soc Nephrol 2002;13:1248-1254.
12. Buzza M, Dagher H, Wang YY, Wilson D, Babon JJ, Cotton RG, Savige J: Mutations in the COL4A4 gene in thin basement membrane disease. Kidney Int 2003;63:447-453.
13. Lemmink HH, Nillesen WN, Mochizuki T, Schroder CH, Brunner HG, van Oost BA, Monnens LA, Smeets HJ: Benign familial hematuria due to mutation of the type IV collagen α4 gene. J Clin Invest 1996;98:1114-1118.
14. Buzza M, Wang YY, Dagher H, Babon JJ, Cotton RG, Powell H, Dowling J, Savage J: COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome. Kidney Int 2001;60:480-483.
15. Slajpah M, Gorinsek B, Berginc G, Vizjak A, Ferluga D, Hvala A, Meglic A, Jaksa I, Furlan P, Gregoric A, Kaplan-Pavlovcic S, Ravnik-Glavac M, Glavac D: Sixteen novel mutations identified in COL4A3 , COL4A4 , and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria. Kidney Int 2007;71:1287-1295.
16. Beirowski B, Weber M, Gross O: Chronic renal failure and shortened lifespan in COL4A3+/- mice: an animal model for thin basement membrane nephropathy. J Am Soc Nephrol 2006;17:1986-1994.
17. Gunwar S, Ballester F, Noelken ME, Sado Y, Ninomiya Y, Hudson BG: Glomerular basement membrane: Identification of a novel disulfide-cross-linked network of α3, α4, and α5 chains of type IV collagen and its implication for pathogenesis of Alport syndrome. J Biol Chem 1998;273:8767-8775.
18. Kashtan CE: Alport syndrome: abnormalities of type IV collagen genes and proteins. Ren Fail 2000;22:737-749.
19. Lemmink HH, Mochizuki T, van den Heuvel LP, Schroder CH, Bamientos A, Monnens LA, van Oost BA, Bruner HG, Reeders ST, Smeets HJ: Mutations in the type IV collagen α3(COL4A3) gene in autosomal recessive Alport syndrome. Hum Mol Genet 1994;3:1269-1273.
20. Barsotti P, Muda AO, Mazzucco G, Massella L, Basolo B, DeMarchi M, Rizzoni G, Monga G, Faraggiana T: Distribution of α-chains of type IV collagen in glomerular basement membranes with ultrastructural alterations suggestive of Alport syndrome. Nephrol Dial Transplant 2001;16:945-952.