46,XY Phenotypic Male with Focal Segmental Glomerulosclerosis Caused by the WT1 Splice Site Mutation
| Autor: | Testuro Nagashima, Yayoi Tanaka, Katsuya Nonomura, Toshihiro Tajima, Kenji Fujieda, Hiroyuki Kusunoki, Satoshi Sasaki |
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| Rok vydání: | 2003 |
| Předmět: |
Genetics
Splice site mutation Endocrinology Diabetes and Metabolism Gonadoblastoma Sex reversal Biology urologic and male genital diseases medicine.disease Phenotype female genital diseases and pregnancy complications Frasier syndrome Endocrinology Focal segmental glomerulosclerosis Glomerulopathy Pediatrics Perinatology and Child Health medicine Segmental glomerulosclerosis |
| Zdroj: | Hormone Research in Paediatrics. 60:302-305 |
| ISSN: | 1663-2826 1663-2818 |
| DOI: | 10.1159/000074249 |
| Popis: | Objective: Frasier syndrome is characterized by progressive glomerulopathy due to nonspecific focal and segmental glomerulosclerosis (FSGS), 46,XY sex reversal and the development of gonadoblastoma from dysgenetic gonads. Donor splice site heterozygous mutations in intron 9 of the Wilms’ tumor gene (WT1) cause this disease. We investigated whether WT1 mutations showed clinical heterogeneity. Patients and Methods: A 6-year-old phenotypic boy was diagnosed as having FSGS. His karyotype was 46,XY. Gonadotropin-releasing hormone and human chorionic gonadotropin stimulation tests revealed normal luteinizing hormone, follicle-stimulating hormone and testosterone responses. The other patient was a 7-year-old 46,XY female with FSGS. Prophylactic gonadectomy was performed and gonadoblastoma was found. By polymerase chain reaction and direct sequencing, WT1 was analyzed in these patients. Results and Conclusion: Both patients had IVS9 + 5G→A in intron 9 of the WT1. Our study indicates a normal 46,XY phenotypic male patient with FSGS. The phenotypic variations of the WT1 splice site mutations are further expanded. |
| Databáze: | OpenAIRE |
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