Steroid-resistant nephrotic syndrome caused by novel WT1 mutation inherited from a mosaic parent.

We report here a novel WT1 mutation associated with SRNS in a female patient, which leads to a Cys428Ser substitution on protein level, affecting one of the cysteine residues responsible for zinc binding in the second zinc finger domain. Surprisingly, the mutation identified in the patient was found to be inherited from the healthy mosaic mother. The presence of mosaicism was confirmed using quantitative polymerase chain reaction (PCR) high-resolution melting. The clinical implications of this finding for the family are discussed. PMID: 26627896 [PubMed - in process]
Source: Renal Failure - Category: Urology & Nephrology Tags: Ren Fail Source Type: research