Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children

Renal Failure

Volumn 33, Issue 9, 2011, Pages 910-914

  Yue, Zhihui ^a   Pei, Yuanyuan ^b   Sun, Liangzhong ^a   Huang, Weijun ^b   Huang, Han ^a   Hu, Bin ^b   Yang, Juan ^a   Jiang, Xiaoyun ^a   Mo, Ying ^a   Chen, Shumei ^a   Lai, Kar Neng ^c   Wang, Yiming ^b  

^a SUN YAT SEN UNIVERSITY   (China)

^b SUN YAT SEN UNIVERSITY   (China)

^c UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

De novo mutations; Denys Drash syndrome; Phenotype; WT1

Indexed keywords

CYCLOSPORIN A; DACTINOMYCIN; FOSINOPRIL; ONCOPROTEIN; PREDNISONE; PROTEIN WT1; UNCLASSIFIED DRUG; VINCRISTINE;

ARTICLE; CAUSE OF DEATH; CHINESE; DENYS DRASH SYNDROME; DIAGNOSTIC IMAGING; DRUG TREATMENT FAILURE; FACE EDEMA; FEMALE; FIBROSING ALVEOLITIS; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KIDNEY FUNCTION TEST; LYMPH NODE METASTASIS; MALE; NEPHRECTOMY; NEPHROBLASTOMA; NUCLEOTIDE SEQUENCE; PNEUMONIA; PRIORITY JOURNAL; PROTEINURIA;

BIOPSY, NEEDLE; CHEMOTHERAPY, ADJUVANT; CHILD, PRESCHOOL; CHINA; DENYS-DRASH SYNDROME; FATAL OUTCOME; FEMALE; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; KIDNEY NEOPLASMS; MALE; MUTATION; NEOPLASM STAGING; NEPHRECTOMY; RISK ASSESSMENT; TREATMENT OUTCOME; WT1 PROTEINS;

EID: 80053499250     PISSN: 0886022X     EISSN: 15256049     Source Type: Journal    
DOI: 10.3109/0886022X.2011.605528     Document Type: Article

References (15)

1. Drash A, Sherman F, Hartmann WH, Blizzard RM. A syndrome of pseudohermaphroditism, Wilms tumor, hypertension, and degenerative renal disease. J Pediat. 1970;76: 585-593
2. Denys P, Malvaux P, van den Berghe H, Tanghe W, Proesmans W. Association of an anatomo-pathological syndrome of male pseudohermaphroditism, Wilms tumor, parenchymatous nephropathy and XX/XY mosaicism. Arch Fr Pediatr. 1967;24:729-739
3. Niaudet P, Gubler MC. WT1 and glomerular diseases. Pediatr Nephrol. 2006;21:1653-1660 (Pubitemid 44390829)
4. Little M, Wells C. A clinical overview of WT1 gene mutations. Hum Mutat. 1997;9:209-225 (Pubitemid 27138814)
5. Call KM, Glaser T, Ito CY, et al. Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms tumor locus. Cell. 1990;60:509-520
6. Pritchard-Jones K, Fleming S, Davidson D, et al. The candidate Wilms tumour gene is involved in genitourinary development. Nature. 1990;346:194-197
7. Scharnhorst V, Dekker P, van der Eb AJ, Jochemsen AG. Internal translation initiation generates novel WT1 protein isoforms with distinct biological properties. J Biol Chem. 1999;274:23456-23462
8. Haber DA, Sohn RL, Buckler AJ, Pelletier J, Call KM, Housman DE. Alternative splicing and genomic structure of the Wilms tumor gene WT1. Proc Natl Acad Sci USA. 1991;88:9618-9622 (Pubitemid 21915682)
9. Nordenskjöld A, Friedman E, Anvret M. WT1 mutations in patients with Denys-Drash syndrome: A novel mutation in exon 8 and paternal allele origin. Hum Genet. 1994;93: 115-120 (Pubitemid 24048178)
10. Coppes MJ, Liefers GJ, Higuchi M, Zinn AB, Balfe JW, Williams BR. Inherited WT1 mutation in Denys-Drash syndrome. Cancer Res. 1992;52:6125-6128
11. Guaragna MS, Soardi FC, Assumpção JG, et al. The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome. J Pediatr Hematol Oncol. 2010;32:486-488
12. Habib R, Loirat C, Gubler MC, et al. The nephropathy associated with male pseudohermaphroditism and Wilms tumor (Drash syndrome): A distinctive glomerular lesion-Report of 10 cases. Clin Nephrol. 1985;24:269-278 (Pubitemid 16186426)
13. Habib R, Gubler MC, Antignac C, Gagnadoux MF. Diffuse mesangial sclerosis: A congenital glomerulopathy with nephrotic syndrome. Adv Nephrol Necker Hosp. 1993;22: 43-57
14. Royer-Pokora B, Beier M, Henzler M, et al. Twenty-four new cases of WT1 germline mutations and review of the literature: Genotype/phenotype correlations for Wilms tumor development. Am J Med Genet A. 2004;127A:249-257 (Pubitemid 38685865)
15. Kohsaka T, Tagawa M, Takekoshi Y, Yanagisawa H, Tadokoro K, Yamada M. Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome. Hum Mutat. 1999;14:466-470