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Human Genetics

, Volume 105, Issue 1–2, pp 10–16 | Cite as

NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C

  • Toshiyuki Yamamoto
  • Eiji Nanba
  • Haruaki Ninomiya
  • Katsumi Higaki
  • Miyako Taniguchi
  • Haidi Zhang
  • Shinjiro Akaboshi
  • Yasuhiro Watanabe
  • Takao Takeshima
  • Koji Inui
  • Shintaro Okada
  • Akemi Tanaka
  • Norio Sakuragawa
  • Gilles Millat
  • Marie  T. Vanier
  • Jill  A. Morris
  • Peter G. Pentchev
  • Kousaku Ohno
Original Investigation

Abstract

Complementary and genomic DNAs isolated from the fibroblasts of 10 Japanese (7 late infantile, 2 juvenile, and 1 adult form of the disease) and one Caucasian patient with Niemann-Pick disease type C were analyzed for mutations in the NPC1 gene. Fourteen novel mutations were found including small deletions and point mutations. A one-base deletion and a point mutation caused splicing errors. The mutations were not clustered in any particular region of the gene and were found both in and out of the transmembrane domains. Three patients were homozygous, five were compound heterozygous, and the remaining three were suspected of being compound hetrozygous with an unknown error in one of their NPC1 alleles. Of the 14 mutations, the G1553A substitution that caused a splicing error of exon 9 appeared to be relatively common in Japanese patients, because two patients were homozygous and one patient was compound heterozygous for this mutation.

Keywords

Polymerase Chain Reac Exon 250B NPC1 Gene Polymerase Chain Reac Product Splice Error 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1999

Authors and Affiliations

  • Toshiyuki Yamamoto
    • 1
  • Eiji Nanba
    • 1
  • Haruaki Ninomiya
    • 2
  • Katsumi Higaki
    • 2
  • Miyako Taniguchi
    • 2
  • Haidi Zhang
    • 2
  • Shinjiro Akaboshi
    • 3
  • Yasuhiro Watanabe
    • 4
  • Takao Takeshima
    • 4
  • Koji Inui
    • 5
  • Shintaro Okada
    • 5
  • Akemi Tanaka
    • 6
  • Norio Sakuragawa
    • 7
  • Gilles Millat
    • 8
  • Marie  T. Vanier
    • 8
  • Jill  A. Morris
    • 9
  • Peter G. Pentchev
    • 9
  • Kousaku Ohno
    • 2
  1. 1.Gene Research Center, Tottori University, 86 Nishi-machi, Yonago 683–8503Japan
  2. 2.Department of Neurobiology, School of Life Sciences, Faculty of Medicine, Tottori University, YonagoJapan
  3. 3.Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, YonagoJapan
  4. 4.Division of Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, YonagoJapan
  5. 5.Department of Pediatrics, Osaka University Medical School, OsakaJapan
  6. 6.Department of Pediatrics, Osaka City University School of Medicine, OsakaJapan
  7. 7.Department of Inherited Metabolic Diseases, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), TokyoJapan
  8. 8.Department of Biochemistry and INSERM U 189, Lyon-Sud Medical School, LyonFrance
  9. 9.National Institute of Neurological Disorders and Stroke, National Institute of Health (NIH), BethesdaUSA

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