WT1 gene mutation responsible for male sex reversal and renal failure: The Frasier syndrome

European Journal of Obstetrics and Gynecology and Reproductive Biology

Volumn 110, Issue 1, 2003, Pages 111-113

  Saylam, K ^a   Simon, P ^a  

^a ERASME HOSPITAL   (Belgium)

Author keywords

Frasier syndrome; Sex reversal and renal failure; WT1 gene mutation

Indexed keywords

WT1 PROTEIN;

ADOLESCENT; AMENORRHEA; ARTICLE; CASE REPORT; DENYS DRASH SYNDROME; DISEASE ASSOCIATION; FEMALE; FRASER SYNDROME; GENE MUTATION; GENETIC ANALYSIS; GONADAL DYSGENESIS; HUMAN; HYPERGONADOTROPIC HYPOGONADISM; KARYOTYPE 46,XY; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; NEPHROBLASTOMA; OVARY; SEX TRANSFORMATION;

EID: 0042928409     PISSN: 03012115     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0301-2115(03)00088-5     Document Type: Article

References (16)

1. Berta P., Hawkins J.R., Sinclair A.H.et al. Genetic evidence equating SRY and the testis-determining factor. Nature. 348:1990;448-450.
2. Jager R.J., Anvret M., Hall K., Scherer G. A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature. 348:1990;452-454.
3. Moore C.C.D., Grumbach M.M. Sex determination and gonadogenesis: a transcription cascade of sex chromosome and autosome gene SRY. Semin. Perinatol. 16:1992;266-278.
4. Frasier S.D., Bashore R.A., Mosier H.D. Gonadoblastoma associated with pure gonadal dysgenesis in monozygotic twins. J. Pediatr. 64:1964;740-745.
5. 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 nephropathie parenchymateuse et d'un mosaïsisme XX/XY. Arch. Fr. Pediatr. 24:1967;729-739.
6. Drash A., Sherman F., Hartmann W.H., Blizzard R.M. A syndrome of pseudohermaphrodism, Wilms' tumour, hypertention and degenerative renal disease. J. Pediatr. 76:1970;585-593.
7. Mueller R.F. The Denys-Drash syndrome. J. Med. Genet. 31:1994;471-477.
8. Koziell A., Grundy R. Frasier and Denys-Drash syndrome: different disorders or part of a spectrum? Arch. Dis. Child. 81:1999;365-369.
9. Verp M.S., Simpson J.L. Abnormal sexual differenciation and neoplasia. Cancer Genet. Cytogenet. 25:1987;191-218.
10. Gressler M., Poustka A., Cavenee W.et al. Homozygous deletions in Wilms' tumours of a zinc-finger gene identified by chromosome jumping. Nature. 343:1990;774-778.
11. Pelletier J., Bruening W., Kadhtan C.E.et al. Germline mutations in the Wilms' tumour suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell. 67:1991;437-447.
12. Little M.H., Williamson K.A., Mannens M.et al. Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion. Hum. Mol. Genet. 2:1993;259-264.
13. Nachtigal M.W., Hirokawa Y., Enyeart-VanHouten D.L.et al. Wilms' tumour 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression. Cell. 93:1998;445-454.
14. Hossain A., Saunders G.F. The human sex-determining gene SRY is a direct target of WT1. J. Biol. Chem. 276:2001;16817-16823.
15. Barbaux S., Niaudet P., Gubler M.C.et al. Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat. Genet. 17:1997;467-470.
16. Klamt B., Koziell A.B., Poulat F.et al. Frasier syndrome is caused by defective alternative splicing leading to an altered ratio of WT1 ± KTS splice isoforms. Hum. Mol. Genet. 74:1998;709-714.