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Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome

1999; Wiley; Volume: 14; Issue: 6 Linguagem: Inglês

10.1002/(sici)1098-1004(199912)14

1098-1004

Takao Kohsaka, Manabu Tagawa, Yasuro Takekoshi, Hiroko Yanagisawa, Keiko Tadokoro, Masao Yamada,

Prenatal Screening and Diagnostics

Human MutationVolume 14, Issue 6 p. 466-470 Rapid Communication Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome Takao Kohsaka, Corresponding Author Takao Kohsaka [email protected] Department of Immunology, National Children's Medical Research Center, Tokyo, Japan National Children's Hospital, Tokyo, JapanNational Children's Hospital, 3-35-31, Taishido, Setagata, Tokyo 154-8509, JapanSearch for more papers by this authorManabu Tagawa, Manabu Tagawa National Children's Hospital, Tokyo, JapanSearch for more papers by this authorYasuro Takekoshi, Yasuro Takekoshi Department of Pediatrics, University of Hokkaido, Sapporo, JapanSearch for more papers by this authorHiroko Yanagisawa, Hiroko Yanagisawa Department of Genetics, National Children's Medical Research Center, Tokyo, JapanSearch for more papers by this authorKeiko Tadokoro, Keiko Tadokoro Department of Genetics, National Children's Medical Research Center, Tokyo, JapanSearch for more papers by this authorMasao Yamada, Masao Yamada Department of Genetics, National Children's Medical Research Center, Tokyo, JapanSearch for more papers by this author Takao Kohsaka, Corresponding Author Takao Kohsaka [email protected] Department of Immunology, National Children's Medical Research Center, Tokyo, Japan National Children's Hospital, Tokyo, JapanNational Children's Hospital, 3-35-31, Taishido, Setagata, Tokyo 154-8509, JapanSearch for more papers by this authorManabu Tagawa, Manabu Tagawa National Children's Hospital, Tokyo, JapanSearch for more papers by this authorYasuro Takekoshi, Yasuro Takekoshi Department of Pediatrics, University of Hokkaido, Sapporo, JapanSearch for more papers by this authorHiroko Yanagisawa, Hiroko Yanagisawa Department of Genetics, National Children's Medical Research Center, Tokyo, JapanSearch for more papers by this authorKeiko Tadokoro, Keiko Tadokoro Department of Genetics, National Children's Medical Research Center, Tokyo, JapanSearch for more papers by this authorMasao Yamada, Masao Yamada Department of Genetics, National Children's Medical Research Center, Tokyo, JapanSearch for more papers by this author First published: 22 November 1999 https://doi.org/10.1002/(SICI)1098-1004(199912)14:6 3.0.CO;2-6Citations: 36AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL 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. Hum Mutat 14:466–470, 1999. © 1999 Wiley-Liss, Inc. REFERENCES Azuma N, Nishina S, Yanagisawa H, Okuyama T, Yamada M. 1996. PAX6 missense mutation in isolated foveal hypoplasia. 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