Molecular analysis of Frasier syndrome: mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis.
J Pediatr Endocrinol Metab
; 15(7): 1047-50, 2002.
Article
em En
| MEDLINE
| ID: mdl-12199335
ABSTRACT
The Wilms' tumor gene (WT1) encodes a protein that is believed to exert transcriptional and tumor-suppressor activities. Mutations in this gene have occasionally been associated with Wilms' tumor (<15% patients) and, more consistently, with three syndromes characterized by urogenital abnormalities (WAGR, Denys-Drash and Frasier syndromes). We report 17 years follow-up of a 29 year-old phenotypic female with 46,XY karyotype, gonadal dysgenesis and nephronophthisis in order to identify possible germline alterations of the WT1 gene. Frasier syndrome was suspected and confirmed by genetic analysis. Sequence analysis permitted the identification of an A40-->G mutation in position +5 in the donor splice site of intron 9. During surgery for streak gonads extirpation, a microscopic gonadoblastoma was found, a typical complication of Frasier syndrome.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Denys-Drash
/
Proteínas WT1
/
Disgenesia Gonadal
/
Nefropatias
/
Glomérulos Renais
/
Mutação
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
J Pediatr Endocrinol Metab
Ano de publicação:
2002
Tipo de documento:
Article