title: Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome.
abstract: We report new mutations in exon 9 of the WT1 gene that did not alter the ratio of +/- KTS splice isoforms in two unrelated patients with Frasier syndrome (FS). The mutation of intron 9 inducing defective alternative splicing was reported to be responsible for this syndrome. The mutations found in our cases occurred in the same exon of the WT1 gene as detected in Denys-Drash syndrome (DDS) and could not be explained by the previously proposed mechanism. The results suggest that the two syndromes originate from the same WT1 gene abnormality. From a molecular biological point of view, we concluded that the two diseases were not separable, and that FS should be included as an atypical form of DDS.
authors.affiliation: Department of Immunology, National Children's Medical Research Center, Tokyo, Japan. tkohsaka@nch.go.jp
authors.forename: T
authors.initials: T
authors.lastname: Kohsaka
authors.forename: M
authors.initials: M
authors.lastname: Tagawa
authors.forename: Y
authors.initials: Y
authors.lastname: Takekoshi
authors.forename: H
authors.initials: H
authors.lastname: Yanagisawa
authors.forename: K
authors.initials: K
authors.lastname: Tadokoro
authors.forename: M
authors.initials: M
authors.lastname: Yamada
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D012734:Disorders of Sex Development / Q000235:genetics*; D005091:Exons; D016162:Genes, Wilms Tumor; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics*; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D020033:Protein Isoforms / Q000235:genetics; D012326:RNA Splicing / Q000235:genetics; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics; D025721:WT1 Proteins
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; D020033:Protein Isoforms; D014157:Transcription Factors; D025721:WT1 Proteins; D004247:DNA