A newly identified exonic mutation of the WT1 gene in a patient with Denys-Drash syndrome.
An 11 month old boy with hypospadias and bilateral undescended testes developed renal failure. Denys-Drash syndrome was suspected and molecular analysis of the WT1 gene was performed, although no Wilms' tumor was identified. Direct sequencing analysis of genomic DNA from this patient revealed a G to A transition resulting in 366Arg to Leu substitution in exon 8 which has hitherto not been described. This newly identified mutation will help in the understanding of functional domains and in making a diagnosis of Denys-Drash syndrome.
Tsuda
M
M
Department of Pediatrics, Nihon University, Tokyo, Japan.
Sakiyama
T
T
Owada
M
M
Chiba
Y
Y
D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D012734:Disorders of Sex Development / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D016147:Genes, Tumor Suppressor / Q000235:genetics*; D006801:Humans; D007223:Infant; D007564:Japan; D007676:Kidney Failure, Chronic / Q000235:genetics*; D007680:Kidney Neoplasms / Q000235:genetics*; D008297:Male; D017421:Sequence Analysis; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*; D025721:WT1 Proteins; D009396:Wilms Tumor / Q000235:genetics*
D004268:DNA-Binding Proteins; D014157:Transcription Factors; D025721:WT1 Proteins