A familial WT1 mutation associated with incomplete Denys-Drash syndrome

European Journal of Pediatrics

Volumn 172, Issue 10, 2013, Pages 1357-1362

  Zhu, Chunhua ^a   Zhao, Fei ^a   Zhang, Weizhen ^a   Wu, Hongmei ^a   Chen, Ying ^a   Ding, Guixia ^a   Zhang, Aihua ^a   Huang, Songming ^a  

^a NANJING MEDICAL UNIVERSITY   (China)

Author keywords

Children; Denys Drash syndrome; Family; Frasier syndrome; WT1 gene mutation

Indexed keywords

CHOLESTEROL; GLOBIN; SERUM ALBUMIN; WT1 PROTEIN;

AMBIGUOUS GENITALIA; ARTICLE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CREATININE BLOOD LEVEL; DENYS DRASH SYNDROME; FAMILIAL DISEASE; FEMALE; FRASIER SYNDROME; GENE MUTATION; GENITAL MALFORMATION; GONADOBLASTOMA; HEMATURIA; HETEROZYGOSITY; HIGH RISK PATIENT; HISTOLOGY; HUMAN; HUMAN TISSUE; HYPOSPADIAS; INGUINAL HERNIA; KARYOTYPE 46,XY; KIDNEY BIOPSY; MALE; MISSENSE MUTATION; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN URINE LEVEL; PROTEINURIA; SCLEROSIS; SCROTUM DISORDER; UREA NITROGEN BLOOD LEVEL;

CHILD, PRESCHOOL; DENYS-DRASH SYNDROME; DISORDERS OF SEX DEVELOPMENT; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION, MISSENSE; WT1 PROTEINS;

EID: 84885293161     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-013-2004-9     Document Type: Article

References (28)

1. Akasaka Y, Kikuchi H, Nagai T, Hiraoka N, Kato S, Hata J (1993) A point mutation found in the WT1 gene in a sporadic wilms tumor without genitourinary abnormalities is identical with the most frequent point mutation in Denys-Drash syndrome. FEBS Lett 317:39-43
2. Baird PN, Santos A, Groves N, Jadresic L, Cowell JK (1992) Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome. Hum Mol Genet 1:301-305
3. Bardeesy N, Zabel B, Schmitt K, Pelletier J (1994) WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion. Genomics 21:663-664
4. Benetti E, Caridi G, Malaventura C, Dagnino M, Leonardi E, Artifoni L, Ghiggeri GM, Tosatto SC, Murer L (2010) A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis. Clin J Am Soc Nephrol: CJASN 5:698-702
5. Coppes MJ, Liefers GJ, Higuchi M, Zinn AB, Balfe JW, Williams BR (1992) Inherited WT1 mutation in Denys-Drash syndrome. Cancer Res 52:6125-6128
6. Denamur E, Bocquet N, Mougenot B, Da Silva F, Martinat L, Loirat C, Elion J, Bensman A, Ronco PM (1999) Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases. J Am Soc Nephrol: JASN 10:2219-2223
7. Denys P, Malvaux P, Van Den Berghe H, Tanghe W, Proesmans W (1967) Association of an anatomo-pathological syndrome of male pseudohermaphroditism, wilms tumor, parenchymatous nephropathy, and XX/XY mosaicism. Arch Fr Pediatr 24:729-739
8. Drash A, Sherman F, Hartmann WH, Blizzard RM (1970) A syndrome of pseudohermaphroditism, wilms tumor, hypertension, and degenerative renal disease. J Pediatr 76:585-593
9. Fencl F, Malina M, Stara V, Zieg J, Mixova D, Seeman T, Blahova K (2012) Discordant expression of a new WT1 gene mutation in a family with monozygotic twins presenting with congenital nephrotic syndrome. Eur J Pediatr 171:121-124
10. Gao F, Maiti S, Sun G, Ordonez NG, Udtha M, Deng JM, Behringer RR, Huff V (2004) The WT1+/R394W mouse displays glomerulosclerosis and early-onset renal failure characteristic of human Denys-Drash syndrome. Mol Cell Biol 24:9899-9910
11. Gessler M, Konig A, Bruns GA (1992) The genomic organization and expression of the WT1 gene. Genomics 12:807-813
12. Habib R, Loirat C, Gubler MC, Niaudet P, Bensman A, Levy M, Broyer M (1985) The nephropathy associated with male pseudohermaphroditism and wilms tumor (Drash syndrome): a distinctive glomerular lesion - report of 10 cases. Clin Nephrol 24:269-278
13. Heathcott RW, Morison IM, Gubler MC, Corbett R, Reeve AE (2002) A review of the phenotypic variation due to the Denys-Drash syndrome-associated germ line WT1 mutation R362X. Hum Mutat 19:462
14. Jeanpierre C, Denamur E, Henry I, Cabanis MO, Luce S, Cecille A, Elion J, Peuchmaur M, Loirat C, Niaudet P, Gubler MC, Junien C (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
15. Klamt B, Koziell A, Poulat F, Wieacker P, Scambler P, Berta P, Gessler M (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
16. Little S, Hanks S, King-Underwood L, Picton S, Cullinane C, Rapley E, Rahman N, Pritchard-Jones K (2005) A WT1 exon 1 mutation in a child diagnosed with Denys-Drash syndrome. Pediatr Nephrol 20:81-85
17. Little M, Wells C (1997) A clinical overview of WT1 gene mutations. Hum Mutat 9:209-225
18. Morrison AA, Viney RL, Ladomery MR (2008) The posttranscriptional roles of WT1, a multifunctional zinc-finger protein. Biochim Biophys Acta 1785:55-62
19. Mucha B, Ozaltin F, Hinkes BG, Hasselbacher K, Ruf RG, Schultheiss M, Hangan D, Hoskins BE, Everding AS, Bogdanovic R, Seeman T, Hoppe B, Hildebrandt F (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
20. Mueller RF (1994) The Denys-Drash syndrome. J Med Genet 31:471-477
21. Niaudet P, Gubler MC (2006) WT1 and glomerular diseases. Pediatr Nephrol 21:1653-1660
22. Ogawa O, Eccles MR, Yun K, Mueller RF, Holdaway MD, Reeve AE (1993) 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
23. Pelletier J, Bruening W, Kashtan CE, Mauer SM, Manivel JC, Striegel JE, Houghton DC, Junien C, Habib R, Fouser L et al (1991) Germ line mutations in the wilms tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 67:437-447
24. Pritchard-Jones K, Rahman N, Gerrard M, Variend D, King-Underwood L (2000) Familial wilms tumor resulting from WT1 mutation: intronic polymorphism causing artifactual constitutional homozygosity. J Med Genet 37:377-379
25. Ratelade J, Arrondel C, Hamard G, Garbay S, Harvey S, Biebuyck N, Schulz H, Hastie N, Pontoglio M, Gubler MC, Antignac C, Heidet L (2010) A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes. Hum Mol Genet 19:1-15
26. Regev M, Kirk R, Mashevich M, Bistritzer Z, Reish O (2008) Vertical transmission of a mutation in exon 1 of the WT1 gene: lessons for genetic counseling. Am J Med Genet A 146A:2332-2336
27. Royer-Pokora B, Beier M, Henzler M, Alam R, Schumacher V, Weirich A, Huff V (2004) Twenty-four new cases of WT1 germ line mutations and review of the literature: genotype/phenotype correlations for wilms tumor development. Am J Med Genet A 127A:249-257
28. Zirn B, Wittmann S, Gessler M (2005) Novel familial WT1 read-through mutation associated with wilms tumor and slow progressive nephropathy. Am J Kidney Dis 45:1100-1104