PT  - JOURNAL ARTICLE
AU  - Pietro Dattolo
AU  - Marco Allinovi
AU  - Paraskevas Iatropoulos
AU  - Stefano Michelassi
TI  - Atypical clinical presentation of a WT1-related syndrome associated with a novel exon 6 gene mutation
AID  - 10.1136/bcr-2013-009543
DP  - 2013 May 25
TA  - BMJ Case Reports
PG  - bcr2013009543
VI  - 2013
4099  - http://casereports.bmj.com/content/2013/bcr-2013-009543.short
4100  - http://casereports.bmj.com/content/2013/bcr-2013-009543.full
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.