title: Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome.
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.
authors.affiliation: Division of Pediatric Nephrology, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, NY 10467, USA.
authors.forename: A
authors.initials: A
authors.lastname: Swiatecka-Urban
authors.forename: M H
authors.initials: MH
authors.lastname: Mokrzycki
authors.forename: F
authors.initials: F
authors.lastname: Kaskel
authors.forename: F
authors.initials: F
authors.lastname: Da Silva
authors.forename: E
authors.initials: E
authors.lastname: Denamur
mesh_terms: D030321:Denys-Drash Syndrome / Q000235:genetics* / Q000473:pathology; D005091:Exons / Q000235:genetics; D005260:Female; D005920:Glomerular Mesangium / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007621:Karyotyping; D009154:Mutation; D012598:Sclerosis; D025721:WT1 Proteins / Q000235:genetics*; D016335:Zinc Fingers
chemical_list: D025721:WT1 Proteins