@article {Dattolobcr2013009543, author = {Pietro Dattolo and Marco Allinovi and Paraskevas Iatropoulos and Stefano Michelassi}, title = {Atypical clinical presentation of a WT1-related syndrome associated with a novel exon 6 gene mutation}, volume = {2013}, elocation-id = {bcr2013009543}, year = {2013}, doi = {10.1136/bcr-2013-009543}, publisher = {BMJ Publishing Group}, abstract = {Wilms{\textquoteright} tumour suppressor gene-1 (WT1) plays a critical role in kidney development and function. Several WT1 mutations can occur in exons 7, 8 and 9 and they have been associated with Denys-Drash syndrome. WT1 mutations of intron 9 have been reported too and associated with Frasier syndrome. However, overlapping and incomplete forms of both the syndromes have been described. We report a novel sequence variant (c.1012A\>T) of the WT1 gene in exon 6 (p.R338X) in a 18-year-old girl with a history of Wilms{\textquoteright} tumour, minor gonadal changes and relatively late-onset nephropathy. WT1-related nephropathies should be suspected in every patient with proteinuria not associated to immunological changes when a congenital neoplasia or minor gonadal anomalies are present.}, URL = {https://casereports.bmj.com/content/2013/bcr-2013-009543}, eprint = {https://casereports.bmj.com/content/2013/bcr-2013-009543.full.pdf}, journal = {Case Reports} }