Pediatric Neurology
Volume 29, Issue 4 , Pages 284-287 , October 2003

New GAA mutations in japanese patients with GSDII (pompe disease)

  • Judy R Pipo, MD

      Affiliations

    • Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan
    • Corresponding Author InformationCommunications should be addressed to:Dr. Yamamoto; Division of Medical Genetics; Kanagawa Children’s Medical Center; 2-138-4 Mutsukawa; Minami-ku, Yokohama 232-8555, Japan.
    • ,
  • Jian-Hua Feng, MD

      Affiliations

    • Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan
    • Department of Child Neurology, Children Hospital, Zhejiang University, Hangzhou, 310003, PR, China
    • ,
  • Toshiyuki Yamamoto, MD, PhD

      Affiliations

    • Gene Research Center, Tottori University, Yonago, Japan
    • Division of Medical Genetics, Kanagawa Children’s Medical Center, Yokohama, Japan
    • ,
  • Yuki Ohsaki

      Affiliations

    • Department of Neurobiology, School of Life Sciences, Faculty of Medicine, Tottori University, Yonago, Japan
    • ,
  • Eiji Nanba, MD, PhD

      Affiliations

    • Gene Research Center, Tottori University, Yonago, Japan
    • ,
  • Seiichi Tsujino, MD, PhD

      Affiliations

    • Department of Inherited Metabolic Diseases, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    • ,
  • Norio Sakuragawa, MD, PhD

      Affiliations

    • Department of Inherited Metabolic Diseases, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    • ,
  • Frank Martiniuk, PhD

      Affiliations

    • Division of Pulmonary and Critical Care Medicine, Department of Medicine, New York University School of Medicine, New York, New York, USA.
    • ,
  • Haruaki Ninomiya, MD, PhD

      Affiliations

    • Department of Neurobiology, School of Life Sciences, Faculty of Medicine, Tottori University, Yonago, Japan
    • ,
  • Akira Oka, MD, PhD

      Affiliations

    • Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan
    • ,
  • Kousaku Ohno, MD, PhD

      Affiliations

    • Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan

Received 10 December 2002 ,Accepted 29 April 2003.

References 

  1. Reuser AJ, Kroos M, Hermans MM, et al.  Glycogenosis type II (acid maltase deficiency). Muscle Nerv. 1995;S3:S61–S69
  2. Raben N, Plotz P, Byrne BJ. Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease). Curr Mol Med. 2002;2:145–166
  3. Reuser AJ, Koster J, Hoogeveen A, Galjaard H. Biochemical, immunological, and cell genetic studies in glycogenosis type II. Am J Hum Genet. 1978;30:132–143
  4. Martiniuk F, Mehler M, Pellicer A, et al.  Isolation of a cDNA human alpha-D-glucosidase and detection of genetic heterogeity for mRNA in three alpha glucosidase deficient patients. Proc Natl Acad Sci USA. 1986;83:9641–9644
  5. Hoefsloot LH, Hoogeveen-Westerveld M, Kroos MA, van Beeumen J, Reuser AJ, Oostra BA. Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex. EMBO J. 1988;7:1697–1704
  6. Hoefsloot H, Hoogeveen-Westerveld M, Reuser AJ, Oostra B. Characterization of the human lysosomal alpha-Glucosidase gene. Biochem J. 1990;272:493–497
  7. Martiniuk F, Bodkin M, Tzall S, Hirschhorn R. Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower “affinity” for glycogen (GAA 2) and transient gene expression in deficient cells. Am J Hum Genet. 1990;47:440–445
  8. Hermans MM, Kroos MA, van Beeumen J, Oostra BA, Reuser AJ. Human lysosomal alpha-glucosidase: Characterization of the catalytic site. J Biol Chem. 1991;266:13507–13512
  9. Huie ML, Anyane-Yeboa K, Guzman E, Hirschhorn R. Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions (Identification of a novel heterozygous 8-kb intragenic deletion (IVS7–19 to IVS15–17) in a patient with glycogen storage disease type II). Am J Hum Genet. 2002;70:1054–1057
  10. Boerkoel CF, Exelbert R, Nicastri C, et al.  Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II. Am J Hum Genet. 1995;56:887–897
  11. Yamamoto T, Nanba E, Ninomiya H, et al.  NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. Hum Genet. 1999;105:10–16
  12. Martiniuk F, Chen A, Donnabella V, et al.  Correction of glycogen storage disease type II by enzyme replacement with a recombinant human acid maltase produced by over-expression in a CHO-DHFR (neg) cell line. Biochem Biophys Res Commun. 2000;276:917–923
  13. Martiniuk F, Hirschhorm R. Characterization of neutral isozymes of human alpha-glucosidase (Differences in substrate specificity, molecular weight and electrophoretic mobility). Biochem Biophys Acta. 1981;658:248–261
  14. Kroos MA, Waitfield AE, Joosse M, Winchester B, Reuser AJ, MacDermot KD. A novel acid alpha-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II. J Inherit Metab Dis. 1997;20:556–558
  15. Nishimoto J, Inui K, Okada S, et al.  A family with pseudodeficiency of acid-glucosidase. Clin Genet. 1988;33:254–261
  16. Tsujino S, Huie M, Kanazawa N, et al.  Frequent mutations in Japanese patients with acid maltase deficiency. Neuromuscul Disord. 2000;10:599–603
  17. Tsunoda H, Ohshima T, Tohyama J, Sasaki M, Sakuragawa N, Martiniuk F. Acid alpha-glucosidase deficiency (Identification and expression of a missense mutation (S529V) in a Japanese adult phenotype). Hum Genet. 1996;97:496–499
  18. Huie ML, Tsujino S, Sklower BS, et al.  Glycogen storage disease type II (Identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype). Biochem Biophys Res Commun. 1998;244:921–927

PII: S0887-8994(03)00267-4

doi: 10.1016/S0887-8994(03)00267-4

Pediatric Neurology
Volume 29, Issue 4 , Pages 284-287 , October 2003

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