Alport syndrome-like basement membrane changes in Frasier syndrome: An electron microscopy study

American Journal of Kidney Diseases

Volumn 41, Issue 5, 2003, Pages 1110-1115

  Ito, Shu ichi ^a   Hataya, Hiroshi ^b   Ikeda, Masahiro ^b   Takata, Ayako ^b   Kikuchi, Haruhito ^b   Hata, Jun ichi ^b   Morikawa, Yukihiko ^b   Kawamura, Sadao ^b   Honda, Masataka ^b  

^a YOKOHAMA CITY UNIVERSITY MEDICAL CENTER   (Japan)

^b NONE

Author keywords

Alport syndrome; Basement membrane; Electron microscopy; Frasier syndrome; Splitting; Thinning; Wilms' tumor suppressor gene (WT1)

Indexed keywords

ADOLESCENT; ALPORT SYNDROME; ARTICLE; CASE REPORT; CHILD; FEMALE; FRASIER SYNDROME; GLOMERULUS BASEMENT MEMBRANE; HUMAN; HUMAN TISSUE; KIDNEY DISEASE; NEPHRITIS; NEPHROBLASTOMA; NEPHROTIC SYNDROME; PROTEINURIA; SCANNING ELECTRON MICROSCOPY; TUMOR SUPPRESSOR GENE;

BASEMENT MEMBRANE; CHILD; DENYS-DRASH SYNDROME; FEMALE; GENES, WILMS TUMOR; HUMANS; KIDNEY GLOMERULUS; MALE; MICROSCOPY, ELECTRON; NEPHRITIS, HEREDITARY; PROTEINURIA;

EID: 0038417839     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0272-6386(03)00209-9     Document Type: Article

References (16)

1. Gessler M, Poutska A, Cavanee W, Neve RL, Orkin SH, Bruns GAP: Homozygous deletion in Wilms' tumors of a zinc finger gene identified by chromosome jumping. Nature 343:774-778, 1990
2. Call KM, Glaser T, Ito CY, Buckler AJ, Pelletier J, Haber DA: Isolation and characterization of zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus. Cell 60:509-520, 1990
3. Pelletier J, Bruening W, Kashtan CE, et al: Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 67:437-447, 1992
4. Denys P, Malvaux P, Berghe HVD, Tanghe W, Proesmans W: Association d'un syndrome anatomopathologique de pseudohermaphrodisme masculin, d'une tumeur de Wilm's, d'une nephropahtie parenchymateuse et d'un mosaicisme XX/XY. Arch Fr Pediatr 24:729-739, 1967
5. Drash A, Sherman F, Hartman WH, Blizzard RM: A syndrome of pseudohermaphroditism, Wilm's tumor, hypertension and degenerative renal disease. J Pediatr 76:585-593, 1970
6. Barbaux S, Niaudet P, Gubler MC, et al: Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet 17:467-701, 1997
7. Kikuchi H, Takata A, Akasaka Y, et al: Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome. J Med Genet 35:45-48, 1998
8. Moorthy AV, Chesney RW, Lubinsky M: Chronic renal failure and XV gonadal dysgenesis; "Frasier" syndrome - A commentary on reported cases. Am J Med Genet 3:397-302, 1987 (suppl)
9. Klamt B, Koziell A, Poulat F, et al: Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1+/KTS splice isoforms. Hum Mol Genet 7:709-714, 1998
10. Jeanpierre C, Denamur E, Henry I, et al: Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database. Am J Hum Genet 62:824-33, 1998
11. Ito S, Takata A, Hataya H, et al: Isolated diffuse mesangial sclerosis and Wilms tumor suppressor gene. J Pediatr 138:425-427, 2001
12. Rumpelt HJ: Alport's syndrome: Specificity and pathogenesis of glomerular basement membrane alterations. Pediatr Nephrol 1:422-7, 1987
13. Mundlos S, Pelletier J, Darveau A, Bachmann M, Winterpacht A, Zabel B: Nuclear localization of the protein encoded by the Wilms' tumor gene WT1 in embryonic and adult tissues. Development 119:1329-1341, 1993
14. Mundel P, Reiser J, Kriz W: Induction of differentiation in cultured rat and human podocytes. J Am Soc Nephrol 8:697-705, 1997
15. Kretzler M, Koeppen-Hagemann I, Kriz W: Podocyte damage is a critical step in the development of glomerulosclerosis in the uninephrectomised-desoxycorticosterone hypertensive rat. Virchows Arch 425:181-193, 1994
16. Shirato I, Hosser H, Kimura K, Sakai T, Tomino Y, Kriz W: The development of focal segmental glomerulosclerosis in masugi nephritis is based on progressive podocyte damage. Virchows Arch 429:255-273, 1996