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• W2078403785 abstract "Human MutationVolume 5, Issue 1 p. 94-96 Mutation in Brief Mitochondrial acetoacetyl-coenzyme a thiolase gene: A Novel 68-bp deletion involving 3′ splice site of intron 7, causing exon 8 skipping in a caucasian patient with β-ketothiolase deficiency Toshiyuki Fukao, Toshiyuki Fukao Department of Pediatrics, Gifu University School of Medicine, Gifu 500, JapanSearch for more papers by this authorXiang-Qian Song, Xiang-Qian Song Department of Pediatrics, Gifu University School of Medicine, Gifu 500, JapanSearch for more papers by this authorSeiji Yamaguchi, Seiji Yamaguchi Department of Pediatrics, Gifu University School of Medicine, Gifu 500, Japan Department of Pediatrics, Shimane Medical University, lzumo 693, JapanSearch for more papers by this authorTadao Orii, Tadao Orii Department of Pediatrics, Gifu University School of Medicine, Gifu 500, JapanSearch for more papers by this authorRonald J. A. Wanders, Ronald J. A. Wanders Department of Pediatric Clinical Laboratory, University Hospital Amsterdam, Amsterdam, The NetherlandsSearch for more papers by this authorBwee. T. Poll-The, Bwee. T. Poll-The Department of Metabolic Diseases, University Children's Hospital “Wilhelmina Kinderziekenhuis,” Utrecht, The NetherlandsSearch for more papers by this authorTakashi Hashimoto, Takashi Hashimoto Department of Biochemistry, Shinshu University School of Medicine, Matsumoto 390, JapanSearch for more papers by this author Toshiyuki Fukao, Toshiyuki Fukao Department of Pediatrics, Gifu University School of Medicine, Gifu 500, JapanSearch for more papers by this authorXiang-Qian Song, Xiang-Qian Song Department of Pediatrics, Gifu University School of Medicine, Gifu 500, JapanSearch for more papers by this authorSeiji Yamaguchi, Seiji Yamaguchi Department of Pediatrics, Gifu University School of Medicine, Gifu 500, Japan Department of Pediatrics, Shimane Medical University, lzumo 693, JapanSearch for more papers by this authorTadao Orii, Tadao Orii Department of Pediatrics, Gifu University School of Medicine, Gifu 500, JapanSearch for more papers by this authorRonald J. A. Wanders, Ronald J. A. Wanders Department of Pediatric Clinical Laboratory, University Hospital Amsterdam, Amsterdam, The NetherlandsSearch for more papers by this authorBwee. T. Poll-The, Bwee. T. Poll-The Department of Metabolic Diseases, University Children's Hospital “Wilhelmina Kinderziekenhuis,” Utrecht, The NetherlandsSearch for more papers by this authorTakashi Hashimoto, Takashi Hashimoto Department of Biochemistry, Shinshu University School of Medicine, Matsumoto 390, JapanSearch for more papers by this author First published: 1995 https://doi.org/10.1002/humu.1380050113Citations: 12AboutPDF 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 References Canning S, Dryja TP (1989) Short direct repeats at the breakpoints of deletions of the retinoblastoma gene. Proc Natl Acad Sci USA 86: 5044– 5048. Daum RS, Lamm P, Mamer OA, Scriver CR (1971) A “new” disorder of isoleucine catabolism. Lancet 2: 1289– 1290. Fukao T, Yamaguchi S, Kano M, Orii T, Fujiki Y, Osumi T, Hashimoto T (1990) Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme: A thiolase and study of the variant enzymes in cultured fibroblasts trom patients with 3-ketothiolase deficiency, J Clin Invest 86: 2086– 2092. Fukao T, Yamaguchi S, Tomatsu S, Orii T, Fraudienst-Egger G, Schrod L, Osumi T, Hashimoto T (1991) Evidence for structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency. Bicchem Biophys Res Commun 179: 124– 129. Fukao T, Yamaguchi S, Orii T, Schutgens RBH, Osumi T, Hashimoto T (1992a) Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-CoA thiolase: A complete analysis of two generations of a family with 3-ketothiolase deficiency. J Clin Invest 89: 474– 479. Fukao T, Yamaguchi, S, Orii T, Osumi T, Hashimoto T (1992b) Molecular basis of 3-ketothiolase deficiency: Identification of an AG to AC substitution at the splice acceptor site of intron 10 causing exon 11 skipping. Biochim Biophys Acta 1139: 184– 188. Fukao T, Yamaguchi S, Scriver CR, Dunbar G, Wakazono A, Kano M, Orii T, Hashimoto T (1993) Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families. Hum Mut 2: 214– 220. Fukao T, Yamaguchi S, Wakazono A, Orii T, Hoganson G, Hashimoto T (1994) Identification of a novel exonic mutation at −13 from 5′ splice site causing exon skipping in a girl with mitochondrial acetoacetyl-CoA thiolase deficiency. J Clin Invest 93: 1035– 1041. Kano M, Fukao T, Yamaguchi S, Orii T, Osumi T, Hashimoto T (1991) Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene. Gene 109: 285– 290. Masuno M, Kano M, Fukao T, Yamaguchi S, Osumi T, Hashimoto T, Takahashi E, Hori T, Orii T (1992) Chromosome mapping of the human mitochondrial acetoacetyl-coenzyme A thiolase gene to 11q22.3-q23.1 by fluorescence in situ hybridization. Cytogenet Cell Genet 60: 121– 122. Nagasawa H, Yamaguchi S, Orii T, Schutgens RBH, Sweetman L, Hashimoto T (1989) Heterogeneity of defects in mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients with 3-ketothiolase deficiency. Pediatr Res 26: 145– 149. Streisinger G, Okada Y, Emrich J, Newton J, Tsugita A, Terzaghi E, Inouye M (1966) Frameshift mutations and the genetic code. Cold Spring Harbor Symp Quant Biol 31: 77– 84. Tanoue A, Endo F, Akaboshi I, Oono T, Arata J, Matsuda I (1991) Molecular defect in siblings with prolidase deficiency and absence or presence of clinical symptoms: A 0.8-kb deletien with breakpoints at the short direct repeat in the PEPD gene and synthesis of abnormal messenger RNA and inactive polypeptide. J Clin Invest 87: 1171– 1176. Yamaguchi S, Orii T, Sakura N, Miyazawa S, Hashimoto T (1988) Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency. J Clin Invest 81: 813– 817. Citing Literature Volume5, Issue11995Pages 94-96 ReferencesRelatedInformation" @default.
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