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 syndromes has opened up the debate as to whether these two conditions are part of the same spectrum or are diVerent disorders caused by diVerent mutations within the same gene. Molecular studies of these rare syndromes are providing valuable insights into the role of the WT1 gene in genitourinary development and underline the increasing importance of genetic analysis for diagnostic, prognostic, and therapeutic purposes.