RT Journal Article
SR Electronic
T1 Atypical clinical presentation of a WT1-related syndrome associated with a novel exon 6 gene mutation
JF BMJ Case Reports
FD BMJ Publishing Group Ltd
SP bcr2013009543
DO 10.1136/bcr-2013-009543
VO 2013
A1 Pietro Dattolo
A1 Marco Allinovi
A1 Paraskevas Iatropoulos
A1 Stefano Michelassi
YR 2013
UL http://casereports.bmj.com/content/2013/bcr-2013-009543.abstract
AB Wilms’ 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’ 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.