Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms' tumor 1 (WT1) gene

European Journal of Pediatrics

Volumn 170, Issue 12, 2011, Pages 1529-1534

  Megremis, Spyridon ^a   Mitsioni, Andromachi ^b   Fylaktou, Irene ^a   Tzeli, Sofia Kitsiou ^a   Komianou, Filadelfia ^c   Stefanidis, Constantinos J ^b   Kanavakis, Emmanuel ^a   Traeger Synodinos, Joanne ^a  

^a UNIVERSITY OF ATHENS   (Greece)

^b P AND A KYRIAKOU CHILDREN S HOSPITAL   (Greece)

^c AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

Author keywords

FSGS; Genotype; Mutation; Phenotype; SRNS; WT1

Indexed keywords

ALBUMIN; ARGININE; CORTICOSTEROID; CYCLOPHOSPHAMIDE; CYCLOSPORIN A; ENALAPRIL; FELODIPINE; METHYLPREDNISOLONE; PREDNISONE; STEROID; TRYPTOPHAN; WT1 PROTEIN;

ADOLESCENT; ADULT; ALBUMIN BLOOD LEVEL; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DRUG SUBSTITUTION; DRUG TREATMENT FAILURE; DRUG WITHDRAWAL; EXON; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GLOMERULUS FILTRATION RATE; GREECE; HUMAN; INFANT; INTRON; KARYOTYPE 46,XX; KARYOTYPE 46,XY; KIDNEY BIOPSY; MALE; NEPHROTIC SYNDROME; NEWBORN; OUTCOME ASSESSMENT; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEINURIA; SCHOOL CHILD; SEQUENCE ANALYSIS; STEROID RESISTANT NEPHROTIC SYNDROME; TUMOR SUPPRESSOR GENE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; DRUG RESISTANCE; FEMALE; GLUCOCORTICOIDS; GREECE; HUMANS; MUTATION; NEPHROTIC SYNDROME; PHENOTYPE; PREVALENCE; WT1 PROTEINS;

EID: 82655182068     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-011-1450-5     Document Type: Article

References (39)

1. F Aucella L Bisceglia P De Bonis 2006 WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes Pediatr Nephrol 21 1393 1398 16909243 10.1007/s00467-006-0225-0 (Pubitemid 44283470)
2. S Barbaux P Niaudet MC Gubler, et al. 1997 Donor splice-site mutations in WT1 are responsible for Frasier syndrome Nat Genet 17 467 470 9398852 10.1038/ng1297-467 1:CAS:528:DyaK2sXnvFWrsrY%3D (Pubitemid 27518399)
3. AS Barbosa CG Hadjiathanasiou C Theodoridis, et al. 1999 The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor Hum Mutat 13 146 153 10094551 10.1002/(SICI)1098-1004(1999)13:2<146::AID-HUMU7>3.0.CO;2-I 1:CAS:528:DyaK1MXhtFKitL8%3D (Pubitemid 29059154)
4. F Borel CK Barilla TB Hamilton, et al. 1996 Effects of Denys-Drash syndrome point mutations on the DNA binding activity of the Wilms' tumor suppressor protein WT1 Biochemistry 35 37 12070 12076 8810912 10.1021/bi960758o 1:CAS:528:DyaK28Xlt1Wisbk%3D (Pubitemid 26313678)
5. N Boute O Gribouval S Roselli, et al. 2000 NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome Nat Genet 24 349 354 10742096 10.1038/74166 1:CAS:528: DC%2BD3cXisVCjsb4%3D (Pubitemid 30187431)
6. AK Büscher B Kranz R Büscher, et al. 2010 Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome Clin J Am Soc Nephrol 5 2075 2084 20798252 10.2215/CJN.01190210
7. G Chernin V Vega-Warner DS Schoeb, et al. 2010 Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations Clin J Am Soc Nephrol 5 1655 1662 20595692 10.2215/CJN.09351209 1:CAS:528:DC%2BC3cXht1eqsrvF
8. HY Cho JH Lee HJ Choi 2008 WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome Pediatr Nephrol 23 63 70 17934764 10.1007/s00467-007-0620-1 (Pubitemid 350245974)
9. L Demmer W Primack V Loik, et al. 1999 Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female J Am Soc Nephrol 10 2215 2218 10505699 1:CAS:528:DyaK1MXms1yls70%3D (Pubitemid 29453500)
10. E Denamur N Bocquet V Baudouin 2000 WT1 splice-site mutations are rarely associated with primary steroid resistant focal and segmental glomerulosclerosis Kidney Int 57 1868 1872 10792605 10.1046/j.1523-1755.2000.00036.x 1:CAS:528:DC%2BD3cXjsFCiu7c%3D (Pubitemid 30252278)
11. E Denamur N Bocquet B Mougenot, et al. 1999 Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases J Am Soc Nephrol 10 2219 2223 10505700 1:STN:280:DyaK1MvjtlGiuw%3D%3D (Pubitemid 29453501)
12. P Denys P Malvaux H Van Den Berghe 1967 Association of an anatomopathological syndrome of male pseudohermaphroditism, Wilms' tumor, parenchymatous nephropathy and XX/XY mosaicism Arch Fr Pédiatr 24 729 739 4292870 1:STN:280:DyaF1c%2FgtlKrtA%3D%3D
13. K Devriendt E Deloof P Moerman, et al. 1995 Diaphragmatic hernia in Denys-Drash syndrome Am J Med Genet 57 97 101 7645607 10.1002/ajmg.1320570120 1:STN:280:DyaK2MzntlGmtg%3D%3D
14. A Drash F Sherman WH Hartmann 1970 A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension and degenerative renal disease J Pediatr 76 585 593 4316066 10.1016/S0022-3476(70)80409-7 1:STN:280:DyaE3c3gs12ktA%3D%3D
15. JHH Ehrich C Geerlings M Zivicnjak, et al. 2007 Steroid-resistant idiopathic childhood nephrosis: overdiagnosed and undertreated Nephrol Dial Transplant 22 8 2183 2193 17504846 10.1093/ndt/gfm092 (Pubitemid 47244695)
16. S Fijita K Sugimoto T Miyazawa, et al. 2010 A female infant with Frasier syndrome showing splice site mutation in Wilm's tumor gene (WT1) intron 9 Clin Nephrol 73 6 487 491
17. SD Frasier RA Bashore HD Mosier 1964 Gonadoblastoma associated with pure gonadal dysgenesis in monozygous twins J Pediatr 64 740 745 14149008 10.1016/S0022-3476(64)80622-3 1:STN:280:DyaF2c7gs12guw%3D%3D
18. J Gellermann CJ Stefanidis A Mitsioni, et al. 2010 Successful treatment of steroid-resistant nephrotic syndrome associated with WT1 mutations Pediatr Nephrol 25 1285 1289 20191369 10.1007/s00467-010-1468-3
19. DA Haber AJ Buckler T Glaser, et al. 1990 An internal deletion within an 11p13 zinc finger gene contributes to the development of Wilms' tumour Cell 61 1257 1269 2163761 10.1016/0092-8674(90)90690-G 1:CAS:528:DyaK3cXltFSgsLo%3D (Pubitemid 20208830)
20. DA Haber RL Sohn AJ Buckler 1991 Alternative splicing and genomic structure of the Wilms' tumor gene WT1 Proc Natl Acad Sci USA 88 9618 9622 1658787 10.1073/pnas.88.21.9618 1:CAS:528:DyaK3sXhslagug%3D%3D (Pubitemid 21915682)
21. TB Hamilton KC Barilla PJ Romaniuk 1995 High affinity binding sites for the Wilms' tumor suppressor protein WT1 Nucleic Acids Res 23 277 284 7862533 10.1093/nar/23.2.277 1:CAS:528:DyaK2MXjvFemsLk%3D
22. B Hinkes RC Wiggins R Gbadegesin, et al. 2006 Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible Nat Genet 38 1397 1405 17086182 10.1038/ng1918 1:CAS:528: DC%2BD28Xht1CntrfO (Pubitemid 44837561)
23. S Ito M Ikeda A Takata 1999 Nephrotic syndrome and end stage disease with WT1 mutation detected at 3 years Pediatr Nephrol 13 790 791 10603123 10.1007/s004670050702 1:STN:280:DC%2BD3c%2FmvV2rsw%3D%3D
24. S Ito A Takata H Hataya, et al. 2001 Isolated diffuse mesangial sclerosis and Wilms' tumor suppressor gene J Pediatr 138 425 427 11241056 10.1067/mpd.2001.111317 1:STN:280:DC%2BD3M7pvVahsQ%3D%3D (Pubitemid 32207151)
25. C Jeanpierre E Denamur I Henry 1998 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 62 824 833 9529364 10.1086/301806 1:CAS:528:DyaK1cXlvVahsrg%3D (Pubitemid 28194324)
26. B Klamt A Koziell F Poulat, et al. 1998 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 9499425 10.1093/hmg/7.4.709 1:CAS:528:DyaK1cXisVCjur0%3D (Pubitemid 28152270)
27. JH Laity HJ Dyson PE Wright 2000 Molecular basis for modulation of biological function by alternate splicing of the Wilms' tumor suppressor protein Proc Natl Acad Sci USA 97 11932 11935 11050227 10.1073/pnas.97.22.11932 1:CAS:528:DC%2BD3cXnvVSgsbs%3D
28. MM Lowik PJ Groenen EN Levtchenko, et al. 2009 Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis-a review Eur J Pediatr 168 1291 1304 19562370 10.1007/s00431-009-1017-x 1:STN:280: DC%2BD1MnislOksg%3D%3D
29. SJ McTaggart E Algar CW Chow, et al. 2001 Clinical spectrum of Denys-Drash and Frasier syndrome Pediatr Nephrol 16 335 339 11354777 10.1007/s004670000541 1:STN:280:DC%2BD3M3lsFehtQ%3D%3D (Pubitemid 32366667)
30. S Megremis A Mitsioni A Mitsioni, et al. 2009 Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome (SRNS) Genet Test Mol Biomarkers 13 2 249 256 19371226 10.1089/gtmb.2008.0083 1:CAS:528:DC%2BD1MXmtVSntrY%3D
31. PJ Mitchell R Tjian 1989 Transcriptional regulation in mammalian cells by sequence-specific DNA binding proteins Science 245 371 378 2667136 10.1126/science.2667136 1:CAS:528:DyaL1MXltFWjtb4%3D (Pubitemid 19203358)
32. B Mucha F Ozaltin BG Hinkes 2006 Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9 Pediatr Res 59 325 331 16439601 10.1203/01.pdr.0000196717.94518.f0 1:CAS:528:DC%2BD28XmslagtA%3D%3D (Pubitemid 43841011)
33. B Royer-Pokora M Beier M Henzler 2004 Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms' tumor development Am J Med Genet 127A 249 257 15150775 10.1002/ajmg.a.30015 (Pubitemid 38685865)
34. RG Ruf M Schultheiss A Lichtenberger, et al. 2004 Prevalence of WT1 mutations in a large cohort of patients with steroid resistant and steroid sensitive nephrotic syndrome Kidney Int 66 564 570 15253707 10.1111/j.1523-1755. 2004.00775.x 1:CAS:528:DC%2BD2cXmvVegsL8%3D (Pubitemid 38981996)
35. V Schumacher K Scharer E Wuhl 1998 Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations Kidney Int 53 1594 1600 9607189 10.1046/j.1523-1755.1998.00948.x 1:CAS:528:DyaK1cXjs12mu7g%3D (Pubitemid 28243741)
36. RH Scott L Walker OE Olsen G Levitt I Kenney E Maher CM Owens K Pritchard-Jones A Craft N Rahman 2006 Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practice Arch Dis Child 91 12 995 999 16857697 10.1136/adc.2006.101295 1:STN:280:DC%2BD28nnvV2rsg%3D%3D (Pubitemid 44863137)
37. A Sinha S Sharma A Gulati, et al. 2010 Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness Pediatr Nephrol 25 2171 2174 20419325 10.1007/s00467-010-1518-x
38. Stefanidis CJ, Querfeld U (2011) The podocyte as a target: cyclosporin A in the management of the nephrotic syndrome caused by WT1 mutations. Eur J Pediatr. doi: 10.1007/s00431-011-1397-6
39. M Tsuda M Owada M Tsuchiya, et al. 1999 Wt1 nephropathy in a girl with normal karyotype (46XX) Clin Nephrol 51 62 63 9988151 1:STN:280: DyaK1M7ktVKmsg%3D%3D (Pubitemid 29027411)