Evidence for the Genetic Heterogeneity of Nephropathic Phenotypes Associated with Denys-Drash and Frasier Syndromes
نویسندگان
چکیده
منابع مشابه
CURRENT TOPIC Frasier and Denys-Drash syndromes: diVerent disorders or part of a spectrum?
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 sy...
متن کاملThe Denys-Drash syndrome.
sent with normal male external genitalia, the vast majority will appear phenotypically female or have ambiguous genitalia (table 1). The majority of cases of the Denys-Drash syndrome with any one of these three phenotypes of their external genitalia will have a normal male karyotype. The relative paucity of cases with a female karyotype may be because of underdiagnosis of the syndrome in phenot...
متن کاملDenys-Drash syndrome.
In 1967, Denys et al. described the triad of ambiguous genitalia, nephrotic syndrome and Wilms' tumor in an XX/ XY mosaic(l). Three years later, Drash et al. described the triad in two patients and suggested that it may be a syndrome(2). Since then the syndrome has come to be known as the Drash syndrome or, more appropriately, as the Denys-Drash syndrome. More than 60 patients with this syndrom...
متن کاملRenal failure in the Denys-Drash and Wilms' tumor-aniridia syndromes.
Nearly 6000 patients enrolled in four clinical trials of the National Wilms' Tumor Study Group during 1969-1995 were followed until death or for a median of 11.0 years of survival for the onset of renal failure (RF). Thirteen of 22 patients with Denys-Drash syndrome and 10 of 46 patients with the Wilms' tumor aniridia syndrome developed RF. The cumulative risks of RF at 20 years from Wilms' tum...
متن کاملInherited WT1 mutation in Denys-Drash syndrome.
Patients with the Denys-Drash syndrome (Wilms' tumor, genital anomalies, and nephropathy) have been demonstrated to carry de novo constitutional mutations in WT1, the Wilms' tumor gene at chromosome 11p13. We report three new cases, two carrying a previously described WT1 exon 9 mutation and one with a novel WT1 exon 8 mutation. However, unlike patients in previous reports, one of our three pat...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 1999
ISSN: 0002-9297
DOI: 10.1086/302409