Journal of mucopolysaccharidosis and rare diseases

  • 제2권1호
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  • Pages.19-22
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  • 2016
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  • 2465-8936(pISSN)
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  • 2465-9452(eISSN)
뮤코다당증연구학회 (Association for Research of MPS and Rare Diseases)
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Prenatal Diagnosis of Mucolipidosis Type II: Comparison of Biochemical and Molecular Analyses

  • Kosuga, Motomichi (Department of Clinical Laboratory Medicine, National Center for Child Health and Development) ;
  • Okada, Michiyo (Department of Clinical Laboratory Medicine, National Center for Child Health and Development) ;
  • Migita, Osuke (Department of Clinical Genetics, National Center for Child Health and Development) ;
  • Tanaka, Toju (Department of Clinical Laboratory Medicine, National Center for Child Health and Development) ;
  • Sago, Haruhiko (Department of Perinatal Medicine, National Center for Child Health and Development) ;
  • Okuyama, Torayuki (Department of Clinical Laboratory Medicine, National Center for Child Health and Development)
  • 투고 : 2016.05.31
  • 심사 : 2016.06.12
  • 발행 : 2016.06.30
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초록

Purpose: Mucolipidosis type II (ML II), also known as I-cell disease is an autosomal recessive inherited disorder of lysosomal enzyme transport caused by a deficiency of the uridine diphosphate (UDP)-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase). Clinical manifestations are skeletal abnormalities, mental retardation, cardiac disease, and respiratory complications. A severely and rapidity progressive clinical course leads to death before 10 years of age. Methods/Results: In this study we diagnosed three cases of prenatal ML II in two different at-risk families. We compared two procedures -biochemical analysis and molecular analysis - for the prenatal diagnosis of ML II. Both methods require an invasive procedure to obtain specimens for the diagnosis. Biochemical analysis requires obtaining cell cultures from amniotic fluid for more than two weeks, and would result in a late diagnosis at 19 to 22 weeks of gestation. Molecular genetic testing by direct sequence analysis is usually possible when mutations are confirmed in the proband. Molecular analysis has an advantage in that it can be performed during the first-trimester. Conclusion: Molecular diagnosis is a preferable method when a prompt decision is necessary.

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참고문헌

  1. Reitman ML, Varki A, Kornfeld S. Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity. J Clin Invest 1981;67:1574-9. https://doi.org/10.1172/JCI110189
  2. Kornfeld S, Sly W. I-cell disease and pseudo-Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization. In: The Metabolic & Molecular Bases of Inherited Disease, Scriver CR, Beaudet AL, Sly WS, Valle D (eds). McGraw Hill: New York; 2001:3469-82.
  3. Hwu WL, Chuang SC, Wang WC, et al. Diagnosis of I-cell disease. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1994;35:508-13.
  4. Huijing F, Warren RJ, Mcleod AGW. Elevated activity of lysosomal enzymes in amniotic fluid of a fetus with mucolipidosis II (I-cell disease). Clinica Chimica Acta 1973;44:453-5. https://doi.org/10.1016/0009-8981(73)90092-2
  5. Poenaru L, Mezard C, Akli S, et al. Prenatal diagnosis of mucolidosis type II on first-trimester amniotic fluid. Prenatal Diagnosis 1990;10:231-5. https://doi.org/10.1002/pd.1970100404
  6. Tiede S, Storch S, Lubke T, et al. Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nature Med 2005;11:1109-12. https://doi.org/10.1038/nm1305
  7. Paik KH, Song SM, Ki CS, et al. Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA. Hum Mutat 2005;26:308-14. https://doi.org/10.1002/humu.20205
  8. Bargal R, Zeigler M, Abu-Libdeh B, et al. When mucolipidosis III meets mucolipidosis II: GNPTA gene mutations in 24 patients. Mol Genet Metab 2006;88:359-63. https://doi.org/10.1016/j.ymgme.2006.03.003
  9. Otomo T, Muramatsu T, Yorifuji T, et al. Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. J Hum Genet 2009;54:145-51. https://doi.org/10.1038/jhg.2009.3
  10. Tappino B, Chuzhanova N, Regis S, et al. Molecular characterization of 22 novel UDP-N-Acetylglucosamine-1-phosphate transferase ${\alpha}$-and ${\beta}$-subunit (GNPTAB) mutations causing mucolipidosis types II ${\alpha}/{\beta}$ and $III{\alpha}/{\beta}$ in 46 patients. Hum Mutat 2009;30:E956-73. https://doi.org/10.1002/humu.21099
  11. Cathey SS, Leroy JG, Wood T, et al. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet 2010;47:38-48. https://doi.org/10.1136/jmg.2009.067736
  12. Matsuda I, Arashima S, Mitsuyama T, et al. Prenatal Diagnosis of I-cell Disease. Humangenetik 1975;30:69-73. https://doi.org/10.1007/BF00273633