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Updated: Oct 4, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome
A Swiatecka-Urban1, M H Mokrzycki, F Kaskel
1Division of Pediatric Nephrology, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, NY 10467, USA.
Abstract:
We report the identification of a novel Wilms tumor suppressor gene mutation in a 5-month-old girl who presented with unilateral Wilms tumor (WT) and renal diffuse mesangial sclerosis typical of Denys-Drash syndrome (DDS). The patient did not have ambiguous genitalia and the karyotype (by amniocentesis) was 46, XX. A de novo constitutional heterozygous mutation in WT1 gene exon 9 coding for the third zinc-finger (1163G-->A, C388Y) was identified. This mutation affects a cysteine residue involved in the coordination of the zinc atom, confirming the importance of these residues in the biological function of WT1 protein.
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