title: Novel mutation in Wilms' tumour 1 gene associated with steroid-resistant nephrotic syndrome.
abstract: We report the case of a paediatric patient with steroid-resistant nephrotic syndrome due to a novel dominant Wilms' tumour 1 mutation. The nucleotide change C1184A, identified in exon 9, results in amino acid substitution Ser395Tyr. Genotyping of parents and healthy controls indicated that this is a de novo mutation not present in healthy individuals. The affected amino acid is evolutionarily conserved and is located in a functionally important domain of the protein involved in DNA binding. Molecular modelling based on crystallography data indicated that the substitution would have a deleterious effect on the protein function.
authors.affiliation: Department of Medical Chemistry and Biochemistry, Molecular Medicine Center , Medical University-Sofia Bulgaria.
authors.forename: Olga
authors.initials: O
authors.lastname: Beltcheva
authors.affiliation: Department of Pediatrics , Medical University-Sofia , Bulgaria.
authors.forename: Anelia
authors.initials: A
authors.lastname: Boueva
authors.affiliation: Department of Biochemistry and Biophysics , Stockholm University , Stockholm , Sweden.
authors.forename: Ekaterina
authors.initials: E
authors.lastname: Morgunova
authors.affiliation: Department of Medical Chemistry and Biochemistry, Molecular Medicine Center , Medical University-Sofia Bulgaria.
authors.forename: Emilia
authors.initials: E
authors.lastname: Boiadjieva
authors.affiliation: Department of Pediatrics , Medical University-Sofia , Bulgaria.
authors.forename: Svetlana
authors.initials: S
authors.lastname: Marinova
authors.affiliation: Department of Medical Chemistry and Biochemistry, Molecular Medicine Center , Medical University-Sofia Bulgaria.
authors.forename: Radka
authors.initials: R
authors.lastname: Kaneva
authors.affiliation: Department of Medical Chemistry and Biochemistry, Molecular Medicine Center , Medical University-Sofia Bulgaria.
authors.forename: Vanio
authors.initials: V
authors.lastname: Mitev
keywords: SRNS; Wt1; nephrotic syndrome