| Frasier syndrome with childhood-onset renal failure. | |
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MedLine Citation:
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PMID: 11509863 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: The Wilms' tumour 1 (WT1) gene encodes a protein which is believed to exert transcriptional and tumour-suppressor activities. Mutations of this gene have occasionally been associated with Wilms' tumour (<15% of cases) and, more consistently, with three syndromes characterized by urogenital abnormalities (WAGR, Denys-Drash and Frasier syndrome). SUBJECT/METHOD: A 25-year-old phenotypic female with a 46,XY karyotype presented with amenorrhoea. An ultrasound scan showed streak gonads and a rudimentary uterus. The patient had a history of post-streptococcal glomerulonephrosis, when aged 4 years, which had rapidly progressed to kidney failure, requiring transplantation at age 8. RESULT: Frasier syndrome was suspected and confirmed by genetic analysis. In fact, direct sequencing of the PCR product of the intron 9 donor splice site revealed a substitution of guanine for adenine in position +5. CONCLUSION: Besides being one of the few Frasier syndrome cases to be genetically characterized, this case is interesting because of the unusually early-onset renal failure. |
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Authors:
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F Buzi; P Mella; A Pilotta; B Felappi; G Camerino; L D Notarangelo |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Hormone research Volume: 55 ISSN: 0301-0163 ISO Abbreviation: Horm. Res. Publication Date: 2001 |
Date Detail:
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Created Date: 2001-08-17 Completed Date: 2001-10-25 Revised Date: 2012-02-22 |
Medline Journal Info:
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Nlm Unique ID: 0366126 Medline TA: Horm Res Country: Switzerland |
Other Details:
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Languages: eng Pagination: 77-80 Citation Subset: IM |
Copyright Information:
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Copyright 2001 S. Karger AG, Basel |
Affiliation:
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Centro di Auxoendocrinologia, Clinica Pediatrica dell'Università di Brescia, Italia. mazzolar@master.cci.unibs.it |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Alternative Splicing Disorders of Sex Development / genetics Genes, Wilms Tumor / genetics* Glomerulonephritis / complications, microbiology Humans Karyotyping Kidney Transplantation Male Mutation Phenotype Renal Insufficiency / genetics*, surgery Streptococcal Infections Syndrome |
| Grant Support | |
ID/Acronym/Agency:
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B.38//Telethon; E.0688//Telethon |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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