| Budget Amount *help |
¥3,800,000 (Direct Cost: ¥3,800,000)
Fiscal Year 2001: ¥1,400,000 (Direct Cost: ¥1,400,000)
Fiscal Year 2000: ¥2,400,000 (Direct Cost: ¥2,400,000)
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| Research Abstract |
In order to clarify the role of WT1 in the development in the development of renal impairment, genitourinary malformation and Wilms tumor, we analyzed the WT1 gene from the cases with these diseases. The results were below.
1. Identification of a WT1 mutation in the cases of familial Wilms' tumor
We found the first case of familial Wilms' tumor with WT1 mutaton.
2. Analysis ofWT1 mutation in children with progressive nephropathy
We analyzed WT1 gene in the child cases of progressive nephropathy (Drash syndrome, Frasier syndrome and the cases without other anomaly). Patients with Drash syndrome and Frasier syndrome were found to have different WT1 mutation pattern. The case without other anomaly also had WT1 mutations. The mutation pattern correlated with the clinical cause of the patient such as progression of renal impairment, the degree of genital anomaly and the development of Wilms' tumor. (Takata, A. Kikuchi, H. et al. J Med Genet 2000)
3 Identification of peculiar renal histology in a patient with Drash syndrome and with WT1 mutation
We examined the pathological state of the kidney in a patient with Drash syndrome, accompanied by novel WT1 mutation. Embryonal hyperplasia of Bowman's capsule epithelium was detected. WT1 was thought to be the development of this peculiar histology. (Fukuzawa, R. Kikuchi, H. Hata, J. et al. in preparation)
4. Detection of a novel WT1 mutation in a patient with Wilms' tumor and genitourinary malformation
We detected a novel WT1 mutation in a patient with Wilms' tumor and male genitourinary malformation (Sakamoto, J., Takata, A., Fukuzawa, R., Kikuchi H., Hata, J. et al, Pediatr Res 2001
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