Abstract | 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: 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.
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Authors | Toshihiro Tajima, Satoshi Sasaki, Yayoi Tanaka, Hiroyuki Kusunoki, Testuro Nagashima, Katsuya Nonomura, Kenji Fujieda |
Journal | Hormone research
(Horm Res)
Vol. 60
Issue 6
Pg. 302-5
( 2003)
ISSN: 0301-0163 [Print] Switzerland |
PMID | 14646409
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright 2003 S. Karger AG, Basel |
Chemical References |
- Chorionic Gonadotropin
- RNA Splice Sites
- Gonadotropin-Releasing Hormone
- Testosterone
- Luteinizing Hormone
- Follicle Stimulating Hormone
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Topics |
- Child
- Chorionic Gonadotropin
- Denys-Drash Syndrome
(complications, genetics, pathology)
- Female
- Follicle Stimulating Hormone
(blood)
- Gene Expression
(genetics)
- Genetic Heterogeneity
- Genetic Predisposition to Disease
(genetics)
- Glomerulosclerosis, Focal Segmental
(complications, diagnosis, genetics)
- Gonadoblastoma
(complications, diagnosis, genetics)
- Gonadotropin-Releasing Hormone
- Humans
- Introns
(genetics)
- Japan
- Luteinizing Hormone
(blood)
- Male
- Ovariectomy
- Phenotype
- Point Mutation
(genetics)
- Polymerase Chain Reaction
(methods)
- RNA Splice Sites
(genetics)
- Sequence Analysis, DNA
(methods)
- Sex Chromosomes
- Testosterone
(blood)
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