Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency
1994; Wiley; Volume: 3; Issue: 4 Linguagem: Inglês
10.1002/humu.1380030415
ISSN1098-1004
AutoresToshinobu Matsuura, Ryuuji Hoshide, Kohji Kiwaki, Satoru Komaki, Emiko Koike, Fumio Endo, Kazuhiko Oyanagi, Yoshimi Suzuki, Ineko Kato, K. Ishikawa, Hitoshi Yoda, Shigeki Kamitani, Yoshiyuki Sakaki, Ichiro Matsuda,
Tópico(s)Folate and B Vitamins Research
ResumoHuman MutationVolume 3, Issue 4 p. 402-406 Mutation in Brief Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency Toshinobu Matsuura, Corresponding Author Toshinobu Matsuura Department of Pediatrics, Kumamoto University School of Medicine, Kutmamoto 860, Japan; Fax: 096-366-3471Department of Pediatrics, Kumamoto University School of Medicine, Kutmamoto 860, Japan; Fax: 096-366-3471Search for more papers by this authorRyuuji Hoshide, Ryuuji Hoshide Department of Pediatrics, Kumamoto University School of Medicine, Kutmamoto 860, Japan; Fax: 096-366-3471Search for more papers by this authorKohji Kiwaki, Kohji Kiwaki Department of Pediatrics, Kumamoto University School of Medicine, Kutmamoto 860, Japan; Fax: 096-366-3471Search for more papers by this authorSatoru Komaki, Satoru Komaki Department of Pediatrics, Kumamoto University School of Medicine, Kutmamoto 860, Japan; Fax: 096-366-3471Search for more papers by this authorEmiko Koike, Emiko Koike Clinical Laboratory of Kumamoto City Medical Association, kumamoto 860, Japan; Fax: 096-366-3471Search for more papers by this authorFumio Endo, Fumio Endo Department of Pediatrics, Kumamoto University School of Medicine, Kutmamoto 860, Japan; Fax: 096-366-3471Search for more papers by this authorKazuhiko Oyanagi, Kazuhiko Oyanagi Department of Pediatrics, Sapporo Medical College, Sapporo 060, Japan; Fax: 096-366-3471Search for more papers by this authorYoshimi Suzuki, Yoshimi Suzuki Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi 440, Japan; Fax: 096-366-3471Search for more papers by this authorIneko Kato, Ineko Kato Department of Pediatrics, Medical School, Nagoya City University, Nagoya 467, Japan; Fax: 096-366-3471Search for more papers by this authorKaoru Ishikawa, Kaoru Ishikawa Department of Obstetrics and Gynecology, Japanese Red Cross Nagoya First Hospital, Nagoya 467, Japan; Fax: 096-366-3471Search for more papers by this authorHitoshi Yoda, Hitoshi Yoda Department of Pediatrics, Japan Red Cross Medical Center, Tokyo 150, Japan; Fax: 096-366-3471Search for more papers by this authorShigeki Kamitani, Shigeki Kamitani Diagnostic Science Department Shionogi and Co., Ltd., Osaka 566, Japan; Fax: 096-366-3471Search for more papers by this authorYoshiyuki Sakaki, Yoshiyuki Sakaki Human Genome Center, The Institute of Medical Science, University of Tokyo, Tokyo 108, Japan; Fax: 096-366-3471Search for more papers by this authorIchiro Matsuda, Ichiro Matsuda Department of Pediatrics, Kumamoto University School of Medicine, Kutmamoto 860, Japan; Fax: 096-366-3471Search for more papers by this author Toshinobu Matsuura, Corresponding Author Toshinobu Matsuura Department of Pediatrics, Kumamoto University School of Medicine, Kutmamoto 860, Japan; Fax: 096-366-3471Department of Pediatrics, Kumamoto University School of Medicine, Kutmamoto 860, Japan; Fax: 096-366-3471Search for more papers by this authorRyuuji Hoshide, Ryuuji Hoshide Department of Pediatrics, Kumamoto University School of Medicine, Kutmamoto 860, Japan; Fax: 096-366-3471Search for more papers by this authorKohji Kiwaki, Kohji Kiwaki Department of Pediatrics, Kumamoto University School of Medicine, Kutmamoto 860, Japan; Fax: 096-366-3471Search for more papers by this authorSatoru Komaki, Satoru Komaki Department of Pediatrics, Kumamoto University School of Medicine, Kutmamoto 860, Japan; Fax: 096-366-3471Search for more papers by this authorEmiko Koike, Emiko Koike Clinical Laboratory of Kumamoto City Medical Association, kumamoto 860, Japan; Fax: 096-366-3471Search for more papers by this authorFumio Endo, Fumio Endo Department of Pediatrics, Kumamoto University School of Medicine, Kutmamoto 860, Japan; Fax: 096-366-3471Search for more papers by this authorKazuhiko Oyanagi, Kazuhiko Oyanagi Department of Pediatrics, Sapporo Medical College, Sapporo 060, Japan; Fax: 096-366-3471Search for more papers by this authorYoshimi Suzuki, Yoshimi Suzuki Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi 440, Japan; Fax: 096-366-3471Search for more papers by this authorIneko Kato, Ineko Kato Department of Pediatrics, Medical School, Nagoya City University, Nagoya 467, Japan; Fax: 096-366-3471Search for more papers by this authorKaoru Ishikawa, Kaoru Ishikawa Department of Obstetrics and Gynecology, Japanese Red Cross Nagoya First Hospital, Nagoya 467, Japan; Fax: 096-366-3471Search for more papers by this authorHitoshi Yoda, Hitoshi Yoda Department of Pediatrics, Japan Red Cross Medical Center, Tokyo 150, Japan; Fax: 096-366-3471Search for more papers by this authorShigeki Kamitani, Shigeki Kamitani Diagnostic Science Department Shionogi and Co., Ltd., Osaka 566, Japan; Fax: 096-366-3471Search for more papers by this authorYoshiyuki Sakaki, Yoshiyuki Sakaki Human Genome Center, The Institute of Medical Science, University of Tokyo, Tokyo 108, Japan; Fax: 096-366-3471Search for more papers by this authorIchiro Matsuda, Ichiro Matsuda Department of Pediatrics, Kumamoto University School of Medicine, Kutmamoto 860, Japan; Fax: 096-366-3471Search for more papers by this author First published: 1994 https://doi.org/10.1002/humu.1380030415Citations: 16AboutPDF 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 Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References Brusilow SW, Horwich AL (1989) Urea cycle enzymes. In CR Scribcr, AL Beamier, WS Sly, D Valle (eds): The Metabolic Basis nt Inherited Disease. 6th Ed. New York: McGraw-Hill, pp 629–663 Carstens RP, Fenton WA, Rosenberg IR (1991) Identification of RNA splicing errurs resulting in human ornithine transearha-mylase deficiency. Am I Hum Genet 48: 1105–1114. Hinkelstein JE, Francomano CA, Brusilow SW, Traystman MD (1900) Use of denaturing gradient gel electrophorcsis for detection of mutation and prospective diagnosis in late onset ornithine transenrhamylase deficiency. Genomics 7: 167–172. Gronipe M, Muzny DM, Gaskey CT (1989) Scanning detection of mutations in human ornithine transcarhamylase by chemical mismatch cleavage. Proc Natl Acad Sci USA 86: 5888–5892. Grompe M, Caskey GT, Fenwick RG (1991) Improved molecular diagnostics tor ornitbinc franscarhaniylase deficiency. Am J Hum Genet 48: 212–222. Hata A, Tsuzuki T, Shimada K, Takiguchi M, Mori M, Matsuda L (1986) Isolation and characterization of the human ornithine transcarhamylase gene: Structure of the 5′-end region. J Biochem 100: 717–725. Hata A, Setoyama C, Shimada K, Takeda H, Kuroda Y, Akaboshi I, Matsuda I (1989) Ornithine transcarhamylase deficiency re-sulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene. Am J Hum Genet 45: 125–127. Hata A, Matsuura T, Setoyama C, Shimada K, Yokoi T, Akahoshi I, Matsuda I (1991) A novel missense mutation in exon 8 of the ornithine transcarhamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency. Hum Genet 87: 28–32. Hentzen D, Pelet A, Feldman D, Rahiet D, Berthelot J, Munnicli A (1991) Fatal hyperammonemia resulting from a C-to-T mutation at a Mspl site of the ornithine transcarbamylase gene. Hum Genet 88: 153–156. Hoshide R, Matsuura T, Komaki S, Koike E, Ueno I, Matsuda I (1993) Specificity of PCR-SSCP for detection of the mutant ornithine transcarbamylase (OTC) gene in patients with OTC deficiency. J Inher Metab Dis 16: 857–862. Huygen R, Crabeel M, Glansdorff N (1987) Nucleotide sequence of the ARG3 gene of the yeast Saccharomyces cerevisiac encoding ornithine carbamoyltransferase. Comparison with other carbamoyl-transferases. Eur J Biochem 166: 371–377. Kraus JP, Hodges PE, Williamson CL, Horwich AL, Kalousek F, Williams R, Rosenberg LE (1985) A cDNA clone for the precursor of rat mitochondrial ornithine transcarbamylase: Comparison of rat and human leader sequences and conservation of catalytic sites. Nucleic Acids Res 13: 155–165. Lyon MF (1972) X-chromosome inactivation and developmental patterns in mammals. Biol Rev 47: 1–35. Maddalena A, Sosnoski DM, Berry GT, Nussbaum RL (1988a) Mosaicism for an intragenic deletion in a boy with mild ornithine ttanscarbamylase deficiency. N Engl J Med 319: 999–1003. Maddalena A, Spence JE, O'Brien WE, Nussbaum RL (1988b) Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarba-mylase deficiency. J Clin Invest 82: 1353–1358. Matsuda I, Hata A, Matsuura T, Tsuzuki T, Shimada K (1989) Structure of the ornithine transcarbamylase (OTC) gene and DNA diagnosis of OTC deficiency. Clin Chim Acta 185: 283–290. Matsuda I, Nagata N, Matsuura T, Oyanagi K, Tada K, Narisawa K, Kitagawa T, Sakiyama T, Yamashita F, Yoshino M (1991) Retrospective survey of urea cycle disorders. Part I. Clinical and laboratory observations of thirty-two Japanese male patients with ornithine transcarbamylase deficiency. Am J Med Genet 38: 85–89. Matsuura T, Hoshide R, Setoyama C, Shimada K, Hase Y, Yana-gawa T, Kajita M, Matsuda I (1993a) Four novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns. Hum Genet 92: 49–56. Matsuura T, Hoshide R, Fukushima Y, Sakiyama T, Owada M, Matsuda I (1993b) Prenatal monitoring of ornithine transcarbamylase deficiency in two families by DNA analysis. J Inher Metab Dis 16: 31–38. Nagata N, Matsuda I, Matsuura T, Oyanagi K, Tada K, Narisawa K, Kitagawa T, Sakiyama T, Yamashita F, Yoshino M (1991) Retrospective survey of urea cycle disorders. Part 2. Neurological outcome in forty-nine Japanese patients with urea cycle enzymopathies. Am J Med Genet 40: 477–481. Old JM, Briand PL, Puvis-Smith S, Howard NJ, Wilcken B, Hammond J, Pearson P, Cathelineau L, Williamson R, Davies KE (1985) Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis. Lancet 1: 73–75. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T (1989) Detection of polymorphisms of human DNA by gel electro-phoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86: 2766–2770. Rozen R, Fox J, Fenton WA, Horwich AL, Rosenberg LE (1985) Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus. Nature 313: 815–817. Rozen R, Fox JE, Hack AM, Fenton WA, Horwich AL, Rosenberg LE (1986) DNA analysis for ornithine transcarbamylase deficiency. J Inher Metab Dis 9 (SuppI): 49–57. Saiki RK, Scharf S, Faloona F, Mullis KB, Horn GT, Erlich HA, Arnheim N (1985) Enzymatic amplification of β-globin ge-nomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 230: 1350–1354. Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, Erlich HA (1988) Primer-directed enzymatic amplification of DNA with a thermostable DNA polymenise. Science 239: 487–491. Spence JE, Maddalena A, O'Brien WE, Fernbach SD, Batshaw ML, Leonard CO, Beaudct AL (1989) Prenatal diagnosis and heterozygote detection by DNA analysis in ornithine transcarbamylase deficiency. J Pediatr 114: 582–588. Suess PJ, Tsai MY, Holzknecht RA, Horowitz M (1992) Screening for gene deletions and known mutations in 13 patients with ornithine ttanscarbamylase deficiency. Biochem Med Metab Biol 47: 250–259. Svirklys LG, Wilcken B, Hammond J, Mackinlay AG, O'Sullivan WJ (1988) Family studies in ornithine transcarbamylase deficiency. Arch Dis Child 63: 297–302. Tuchman M, Holzknecht RA, Gueron AB, Berry SA, Tsai MY (1992) Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism. Pediatr Res 32: 600–604. Citing Literature Volume3, Issue41994Pages 402-406 ReferencesRelatedInformation
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