Clinical and genetic features in autosomal recessive and X-linked Alport syndrome

Pediatric Nephrology

Volumn 29, Issue 3, 2014, Pages 391-396

  Wang, Yanyan ^a   Sivakumar, Vanessa ^a   Mohammad, Mardhiah ^a,b   Colville, Deb ^a   Storey, Helen ^c   Flinter, Frances ^c   Dagher, Hayat ^a   Savige, Judy ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b INTERNATIONAL ISLAMIC UNIVERSITY MALAYSIA   (Malaysia)

^c GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Alport syndrome; Nonsense mutations; Retinopathy

Indexed keywords

ADOLESCENT; ADULT; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, X-LINKED; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEARING LOSS; HEREDITY; HUMANS; KIDNEY FAILURE, CHRONIC; MALE; MIDDLE AGED; MUTATION; NEPHRITIS, HEREDITARY; PEDIGREE; PHENOTYPE; PREDICTIVE VALUE OF TESTS; PROGNOSIS; RETINAL DISEASES; RISK FACTORS; SEX FACTORS; TIME FACTORS; YOUNG ADULT;

EID: 84894288001     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-013-2643-0     Document Type: Article

References (17)

1. Gubler M, Levy M, Broyer M, Naizot C, Gonzales G, Perrin D, Habib R (1981) Alport's syndrome. A report of 58 cases and a review of the literature. Am J Med 70:493-505 (Pubitemid 11153813)
2. Flinter FA, Cameron JS, Chantler C, Houston I, Bobrow M (1988) Genetics of classic Alport's syndrome. Lancet 2:1005-1007
3. Feingold J, Bois E, Chompret A, Broyer M, Gubler MC, Grunfeld JP (1985) Genetic heterogeneity of Alport syndrome. Kidney Int 27:672-677 (Pubitemid 15092195)
4. Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL, Tryggvason K (1990) Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248:1224-1227
5. Mochizuki T, Lemmink HH, Mariyama M, Antignac C, Gubler MC, Pirson Y, Verellen-Dumoulin C, Chan B, Schroder CH, Smeets HJ, Reeders ST (1994) Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet 8:77-81
6. Colville D, Savige J, Morfis M, Ellis J, Kerr P, Agar J, Fasset R (1997) Ocular manifestations of autosomal recessive Alport syndrome. Ophthalmic Genet 18:119-128
7. Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schroder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC (2000) X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol 11:649-657 (Pubitemid 30171874)
8. Savige J, Rana K, Tonna S, Buzza M, Dagher H, Wang YY (2003) Thin basement membrane nephropathy. Kidney Int 64:1169-1178 (Pubitemid 37153781)
9. Hertz JM, Thomassen M, Storey H, Flinter F (2012) Clinical utility gene card for: Alport syndrome. Eur J Hum Genet 20
10. Nakanishi K, Yoshikawa N, Iijima K, Kitagawa K, Nakamura H, Ito H, Yoshioka K, Kagawa M, Sado Y (1994) Immunohistochemical study of alpha 1-5 chains of type IV collagen in hereditary nephritis. Kidney Int 46:1413-1421 (Pubitemid 24330722)
11. van der Loop FT, Monnens LA, Schroder CH, Lemmink HH, Breuning MH, Timmer ED, Smeets HJ (1999) Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin. Kidney Int 55:1217-1224 (Pubitemid 29157117)
12. Torra R, Badenas C, Cofan F, Callis L, Perez-Oller L, Darnell A (1999) Autosomal recessive Alport syndrome: linkage analysis and clinical features in two families. Nephrol Dial Transplant 14:627-630 (Pubitemid 29105989)
13. Gubler MC, Knebelmann B, Beziau A, Broyer M, Pirson Y, Haddoum F, Kleppel MM, Antignac C (1995) Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution. Kidney Int 47:1142-1147
14. Rumpelt HJ, Langer KH, Scharer K, Straub E, Thoenes W (1974) Split and extremely thin glomerular basement membranes in hereditary nephropathy (Alport's syndrome). Virchows Arch A Pathol Anat Histol 364:225-233
15. Hanson H, Storey H, Pagan J, Flinter F (2011) The value of clinical criteria in identifying patients with X-linked Alport syndrome. Clin J Am Soc Nephrol 6:198-203
16. Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Dahan K, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schroder C, Sanak M, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC (2003) X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a European Community Alport Syndrome Concerted Action study. J Am Soc Nephrol 14:2603-2610 (Pubitemid 37169346)
17. Tan R, Colville D, Wang YY, Rigby L, Savige J (2010) Alport retinopathy results from severe COL4A5 mutations and predicts early renal failure. Clin J Am Soc Nephrol 5:34-38