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Horm Res. 2001;55(2):77-80.

Frasier syndrome with childhood-onset renal failure.

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  • 1Centro di Auxoendocrinologia, Clinica Pediatrica dell'Università di Brescia, Italia. mazzolar@master.cci.unibs.it

Abstract

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.

Copyright 2001 S. Karger AG, Basel

PMID:
11509863
[PubMed - indexed for MEDLINE]
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