Frasier syndrome with childhood-onset renal failure.

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.

• Authors: F Buzi, P Mella, A Pilotta, B Felappi, G Camerino, L D Notarangelo
• Journal: Hormone research (Horm Res) Vol. 55 Issue 2 Pg. 77-80 ( 2001) ISSN: 0301-0163 [Print] Switzerland
• PMID: 11509863 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2001 S. Karger AG, Basel

Topics

• 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