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Volumn 53, Issue 6, 1998, Pages 1594-1600

Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations

Author keywords

Denys Drash syndrome; Diffuse mesangial sclerosis; Nephrotic syndrome; Renal failure; Wilms' tumor

Indexed keywords

CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONFERENCE PAPER; DENYS DRASH SYNDROME; ENZYME ANALYSIS; EXON; GENOTYPE; HUMAN; KIDNEY BIOPSY; KIDNEY FAILURE; MISSENSE MUTATION; NEPHROBLASTOMA; NEPHROTIC SYNDROME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RISK FACTOR; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 7144261709     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1755.1998.00948.x     Document Type: Conference Paper
Times cited : (127)

References (44)
  • 1
    • 0014119131 scopus 로고
    • Association d'un syndrome anatomopathologique de pseudohermaphrodisme masculin, d'une tumeur de Wilms, d'une néphropathie parenchymateuse et d'un mosaicisme XX/XY
    • DENYS P, MALVAUX P, VAN DEN BERGHE H, TANGHE W, PROESMANS W: Association d'un syndrome anatomopathologique de pseudohermaphrodisme masculin, d'une tumeur de Wilms, d'une néphropathie parenchymateuse et d'un mosaicisme XX/XY. Arch Franc Pediat 24:729-739, 1967
    • (1967) Arch Franc Pediat , vol.24 , pp. 729-739
    • Denys, P.1    Malvaux, P.2    Van Den Berghe, H.3    Tanghe, W.4    Proesmans, W.5
  • 2
    • 0014775569 scopus 로고
    • A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease
    • DRASH A, SHERMAN F, HARTMANN W, BLIZZARD R: A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease. J Pediatr 76:585-593, 1970
    • (1970) J Pediatr , vol.76 , pp. 585-593
    • Drash, A.1    Sherman, F.2    Hartmann, W.3    Blizzard, R.4
  • 3
    • 0022357227 scopus 로고
    • The nephropathy associated with male pseudohermaphroditism and Wilms' tumor (Drash syndrome): A distinctive glomerular lesion-report of 10 cases
    • HABIB R, LOIRAT C, GUBLER MC, NIAUDET P, BENSMAN A, LEVY M, BROYER M: The nephropathy associated with male pseudohermaphroditism and Wilms' tumor (Drash syndrome): A distinctive glomerular lesion-report of 10 cases. Clin Nephrol 24:269-278, 1985
    • (1985) Clin Nephrol , vol.24 , pp. 269-278
    • Habib, R.1    Loirat, C.2    Gubler, M.C.3    Niaudet, P.4    Bensman, A.5    Levy, M.6    Broyer, M.7
  • 4
    • 0025169598 scopus 로고
    • Clinicopathologic review of twelve children with nephropathy, Wilms' tumor, and genital abnormalities (Drash syndrome)
    • JADRESIC L, LEAKE J, GORDON I, DILLON MJ, GRANT DB, PRITCHARD J, RISDON RA, BARRATT TM: Clinicopathologic review of twelve children with nephropathy, Wilms' tumor, and genital abnormalities (Drash syndrome). J Pediatr 117:717-725, 1990
    • (1990) J Pediatr , vol.117 , pp. 717-725
    • Jadresic, L.1    Leake, J.2    Gordon, I.3    Dillon, M.J.4    Grant, D.B.5    Pritchard, J.6    Risdon, R.A.7    Barratt, T.M.8
  • 6
    • 0027292680 scopus 로고
    • Nephrotic syndrome in the 1st year of life
    • HABIH R: Nephrotic syndrome in the 1st year of life. Ped Nephrol 7:336-346, 1993
    • (1993) Ped Nephrol , vol.7 , pp. 336-346
    • Habih, R.1
  • 8
    • 0025098654 scopus 로고
    • Homozygous deletion in Wilms' tumours of a zink finger gene identified by chromosome jumping
    • GESSLER M, POUSTKA A, CAVENEE W, NEVE RL, ORKIN SH, BRUNS GAP: Homozygous deletion in Wilms' tumours of a zink finger gene identified by chromosome jumping. Nature 343:774-778, 1990
    • (1990) Nature , vol.343 , pp. 774-778
    • Gessler, M.1    Poustka, A.2    Cavenee, W.3    Neve, R.L.4    Orkin, S.H.5    Bruns, G.A.P.6
  • 10
    • 0026749126 scopus 로고
    • RNA polymerase chain reaction detects different levels of four alternatively spliced WT1 transcripts in Wilms' tumors
    • BRENNER B, WILDHARDT G, SCHNEIDER S, ROYER-POKORA B: RNA polymerase chain reaction detects different levels of four alternatively spliced WT1 transcripts in Wilms' tumors. Oncogene 7:1431-1433, 1992
    • (1992) Oncogene , vol.7 , pp. 1431-1433
    • Brenner, B.1    Wildhardt, G.2    Schneider, S.3    Royer-Pokora, B.4
  • 11
    • 0030891372 scopus 로고    scopus 로고
    • A clinical overview of WT1 gene mutations
    • LITTLE M, WELLS C: A clinical overview of WT1 gene mutations. Hum Mutation 9:209-225, 1997
    • (1997) Hum Mutation , vol.9 , pp. 209-225
    • Little, M.1    Wells, C.2
  • 13
    • 0025788974 scopus 로고
    • WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour
    • PELLETIER J, BRUENING W, LI FP, HABER DA, GLASER T, HOUSMAN DE: WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour. Nature 353:431-434, 1991
    • (1991) Nature , vol.353 , pp. 431-434
    • Pelletier, J.1    Bruening, W.2    Li, F.P.3    Haber, D.A.4    Glaser, T.5    Housman, D.E.6
  • 14
    • 0026332306 scopus 로고
    • Cell types expressing the Wilms' tumour gene (WT1) in Wilms' tumours: Implication for tumour histogenesis
    • PRITCHARD-JONES K, FLEMING S: Cell types expressing the Wilms' tumour gene (WT1) in Wilms' tumours: Implication for tumour histogenesis. Oncogene 6:2211-2220, 1991
    • (1991) Oncogene , vol.6 , pp. 2211-2220
    • Pritchard-Jones, K.1    Fleming, S.2
  • 15
    • 0027378413 scopus 로고
    • Nuclear localization of the protein encoded by the Wilms' tumor gene WT1 in embryonic and adult tissues
    • MUNDLOS S, PELLETIER J, DARVEAU A, BACHMANN M, WINTERPRACHT 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
    • (1993) Development , vol.119 , pp. 1329-1341
    • Mundlos, S.1    Pelletier, J.2    Darveau, A.3    Bachmann, M.4    Winterpracht, A.5    Zabel, B.6
  • 18
    • 0027749353 scopus 로고
    • A novel zinc finger mutation in a patient with Denys-Drash syndrome
    • BAIRD PN, COWELL JK: A novel zinc finger mutation in a patient with Denys-Drash syndrome. Hum Mol Genet 2:2193-2194, 1993
    • (1993) Hum Mol Genet , vol.2 , pp. 2193-2194
    • Baird, P.N.1    Cowell, J.K.2
  • 20
    • 0028091340 scopus 로고
    • WT1 mutations in patients with Denys-Drash syndrome: A novel muatation in exon 8 and paternal allele origin
    • NORDENSKJÖLD A, FRIEDMAN E, ANVRET M: WT1 mutations in patients with Denys-Drash syndrome: A novel muatation in exon 8 and paternal allele origin. Hum Genet 93:115-120, 1994
    • (1994) Hum Genet , vol.93 , pp. 115-120
    • Nordenskjöld, A.1    Friedman, E.2    Anvret, M.3
  • 21
    • 0029013180 scopus 로고
    • Nephropathy with Wilms' tumour or gonadal dysgenesis: Incomplete Denys-Drash syndrome or separate disease?
    • SCHMITT K, ZABEL B, TULZER G, EITELBERGER F, PELLETIER J: Nephropathy with Wilms' tumour or gonadal dysgenesis: Incomplete Denys-Drash syndrome or separate disease? Eur J Pediatr 154:577-581, 1995
    • (1995) Eur J Pediatr , vol.154 , pp. 577-581
    • Schmitt, K.1    Zabel, B.2    Tulzer, G.3    Eitelberger, F.4    Pelletier, J.5
  • 22
    • 0029901855 scopus 로고    scopus 로고
    • A newly identified exonic mutation of the WT1 gene in a patient with Denys-Drash syndrome
    • TSUDA M, SAKIYAMA T, OWADA M, CHIBA Y: A newly identified exonic mutation of the WT1 gene in a patient with Denys-Drash syndrome. Acta Ped Jap 38:265-266, 1996
    • (1996) Acta Ped Jap , vol.38 , pp. 265-266
    • Tsuda, M.1    Sakiyama, T.2    Owada, M.3    Chiba, Y.4
  • 24
    • 0028181317 scopus 로고
    • WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion
    • BARDEESY N, ZABEL B, SCHMITT K, PELLETIER J: WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion. Genomics 21: 663-665, 1993
    • (1993) Genomics , vol.21 , pp. 663-665
    • Bardeesy, N.1    Zabel, B.2    Schmitt, K.3    Pelletier, J.4
  • 26
    • 0027431441 scopus 로고
    • A novel mutation of the WT1 gene (a tumor suppressor gene for Wilms' tumor) in a patient with Denys-Drash syndrome
    • SAKAI A, TADOKORO K, YANAGISAWA M: A novel mutation of the WT1 gene (a tumor suppressor gene for Wilms' tumor) in a patient with Denys-Drash syndrome. Hum Mol Genet 2:1969-1979, 1993
    • (1993) Hum Mol Genet , vol.2 , pp. 1969-1979
    • Sakai, A.1    Tadokoro, K.2    Yanagisawa, M.3
  • 28
    • 0029858138 scopus 로고    scopus 로고
    • A novel mutation H373Y in the Wilms' tumor suppressor gene, WT1, associated with Denys-Drash syndrome
    • GHAKEMANI M, CHAN C-B, BISTRITZER T, ALADJEM M, TIEDER M, PELLETIER J: A novel mutation H373Y in the Wilms' tumor suppressor gene, WT1, associated with Denys-Drash syndrome. Hum Hered 46:336-338, 1996
    • (1996) Hum Hered , vol.46 , pp. 336-338
    • Ghakemani, M.1    Chan, C.-B.2    Bistritzer, T.3    Aladjem, M.4    Tieder, M.5    Pelletier, J.6
  • 30
    • 0027518665 scopus 로고
    • A novel insertional mutation at the third zinc finger coding region of the WT1 gene in Denys-Drash syndrome
    • OGAWA O, ECCLES, MR, YUN K, MUELLER RF, HOLDAWAY MDD, REEVE AE: A novel insertional mutation at the third zinc finger coding region of the WT1 gene in Denys-Drash syndrome. Hum Mol Genet 2:203-204, 1992
    • (1992) Hum Mol Genet , vol.2 , pp. 203-204
    • Ogawa, O.1    Eccles, M.R.2    Yun, K.3    Mueller, R.F.4    Holdaway, M.D.D.5    Reeve, A.E.6
  • 31
    • 0026907525 scopus 로고
    • Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome
    • BAIRD PN, SANTOS A, GROVES N, JADRESIC L, COWELL JK: Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome. Hum Mol Genet 1:301-305, 1992
    • (1992) Hum Mol Genet , vol.1 , pp. 301-305
    • Baird, P.N.1    Santos, A.2    Groves, N.3    Jadresic, L.4    Cowell, J.K.5
  • 32
    • 0028947239 scopus 로고
    • Do children with diffuse messangial sclerosis in association with mutations of the Wilms' tumour suppressor gene (WT1) require bilateral nephrectomy?
    • WEBB NJA, LEWIS MA, WILLIAMSON K, VAN HEYNINGEN V, BRUCE J, LENDON M, POSTLETHWAITE RJ: Do children with diffuse messangial sclerosis in association with mutations of the Wilms' tumour suppressor gene (WT1) require bilateral nephrectomy? Pediatr Nephrol 9:252-253, 1995
    • (1995) Pediatr Nephrol , vol.9 , pp. 252-253
    • Webb, N.J.A.1    Lewis, M.A.2    Williamson, K.3    Van Heyningen, V.4    Bruce, J.5    Lendon, M.6    Postlethwaite, R.J.7
  • 33
    • 0027371520 scopus 로고
    • Further evidence that imbalances of the WT1 isoforms may be involved in Denys-Drash syndrome
    • KÖNIG A, JAKUBICZKA S, WIEACKER P, SCHLOSSER H, GESSLER M: Further evidence that imbalances of the WT1 isoforms may be involved in Denys-Drash syndrome. Hum Mol Genet 2:1967-1968, 1993
    • (1993) Hum Mol Genet , vol.2 , pp. 1967-1968
    • König, A.1    Jakubiczka, S.2    Wieacker, P.3    Schlosser, H.4    Gessler, M.5
  • 35
    • 0028337140 scopus 로고
    • The Denys-Drash syndrome
    • MUELLER RF: The Denys-Drash syndrome. J Med Genet 31:471-477, 1994
    • (1994) J Med Genet , vol.31 , pp. 471-477
    • Mueller, R.F.1
  • 37
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • ORITA M, SUZUKI Y, SEKIYA T, HAYASHI K: Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5:874-879, 1989
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 38
    • 0027359015 scopus 로고
    • Denys-Drash syndrome: Relating a clinical disorder to genetic alterations in the tumor suppressor gene WT1
    • COPPES MJ, HUFF V, PELLETIER J: Denys-Drash syndrome: Relating a clinical disorder to genetic alterations in the tumor suppressor gene WT1. J Pediatr 123:673-678, 1993
    • (1993) J Pediatr , vol.123 , pp. 673-678
    • Coppes, M.J.1    Huff, V.2    Pelletier, J.3
  • 40
    • 0027172452 scopus 로고
    • A donor splice site mutation in the Wilms tumor gene WT-1 results in exon skipping and is associated with Wilms' tumor and genital malformations
    • SCHNEIDER S, WILDHARDT G, LUDWIG R, ROYER-POKORA B: A donor splice site mutation in the Wilms tumor gene WT-1 results in exon skipping and is associated with Wilms' tumor and genital malformations. Human Genet 91:599-604, 1993
    • (1993) Human Genet , vol.91 , pp. 599-604
    • Schneider, S.1    Wildhardt, G.2    Ludwig, R.3    Royer-Pokora, B.4
  • 41
    • 0022308077 scopus 로고
    • Pseudohermaphroditism, glomerulopathy, and Wilms tumor (Drash syndrome)
    • EDIDIN DV: Pseudohermaphroditism, glomerulopathy, and Wilms tumor (Drash syndrome), (abstract) J Pediatr 107:988, 1985
    • (1985) J Pediatr , vol.107 , pp. 988
    • Edidin, D.V.1
  • 43
    • 0027342443 scopus 로고
    • Diffuse mesangial sclerosis: A congenital glomerulopathy with nephrotic syndrome
    • St. Louis, Mosby Year Book Inc.
    • HABIB R, GUBLER M-C, ANTIGNAC C, GAGNADOUX MF: Diffuse mesangial sclerosis: A congenital glomerulopathy with nephrotic syndrome, in Advances in Nephrology (vol 22), St. Louis, Mosby Year Book Inc., 1993, pp 43-57
    • (1993) Advances in Nephrology , vol.22 , pp. 43-57
    • Habib, R.1    Gubler, M.-C.2    Antignac, C.3    Gagnadoux, M.F.4
  • 44
    • 0028792063 scopus 로고
    • Maping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis
    • FUCHSHUBER A, JEAN G, GRIBOUVAL O, GUBLER M-C, BROYER M, BECKMANN J, NIAUDET P, ANTIGNAC C: Maping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis. Hum Mol Genet 4:2155-2158, 1995
    • (1995) Hum Mol Genet , vol.4 , pp. 2155-2158
    • Fuchshuber, A.1    Jean, G.2    Gribouval, O.3    Gubler, M.-C.4    Broyer, M.5    Beckmann, J.6    Niaudet, P.7    Antignac, C.8


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