BMJ Case Reports 2013; doi:10.1136/bcr-2013-009543

Atypical clinical presentation of a WT1-related syndrome associated with a novel exon 6 gene mutation

  1. Stefano Michelassi1
  1. 1Nephrology and Dialysis Unit, S M Annunziata Hospital, Firenze, Italy
  2. 2Centro di Ricerche Cliniche per le Malattie Rare ‘Aldo e Cele Daccò’, Ranica, Bergamo, Italy
  1. Correspondence to Pietro Dattolo, pierodattolo{at}


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.

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