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May 1, 2007 · Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female. Wilms' tumor suppressor gene WT1: from structure to renal pathophysiologic features.
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Frasier and Denys-Drash syndromes are both characterised by renal disease, intersex, and a predisposition to develop tumours. The association of mutations within the Wilms’s tumour suppressor gene (WT1) and the Denys-Drash syndrome is now well described. More recently, mutations of the WT1 gene have also been found to cause Frasier syndrome. The clinical and genetic overlap between these two ...
Frasier syndrome is an uncommon genetic disorder featuring progressive glomerulopathy, male pseudohermaphroditism, and gonadal dysgenesis with increased risk of gonadoblastoma and malignant germ cell tumors. It is caused by mutations in the donor splice site in intron 9 of the WT1 gene. However, because of its rarity there is limited literature ...
Mar 17, 2023 · Frasier syndrome (FS) is a rare inherited disorder characterized by gonadal dysgenesis and progressive nephropathy, resulting from mutations in the intron 9 splice donor site of the Wilms tumor 1 (WT1) gene. It is associated with male gonadal dysgenesis (female external genitalia with a 46 XY karyot …
The diagnosis of Frasier syndrome is based on the association of male pseudohermaphroditism (as a result of gonadal dysgenesis), with steroid-resistant nephrotic syndrome due to focal and segmental glomerular sclerosis (FSGS), which progresses to end-stage renal failure (ESRF) during adolescence or …
Apr 1, 1998 · WT1 intron 9 mutation in familial Frasier syndrome. A very interesting case of possible familial Frasier syndrome had been published by Kinberg et al. . Three of the female children had kidney failure at ages 2, 11 and 16 years . Typical focal glomerular sclerosis and XY gonadal dysgenesis had been diagnosed in ws131B.
