NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C (original) (raw)

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.

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Authors and Affiliations

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

Authors

1. Toshiyuki Yamamoto
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2. Eiji Nanba
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3. Haruaki Ninomiya
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4. Katsumi Higaki
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5. Miyako Taniguchi
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6. Haidi Zhang
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7. Shinjiro Akaboshi
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8. Yasuhiro Watanabe
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9. Takao Takeshima
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10. Koji Inui
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11. Shintaro Okada
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12. Akemi Tanaka
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13. Norio Sakuragawa
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14. Gilles Millat
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15. Marie T. Vanier
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16. Jill A. Morris
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17. Peter G. Pentchev
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18. Kousaku Ohno
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Yamamoto, T., Nanba, E., Ninomiya, H. et al. NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.Hum Genet 105, 10–16 (1999). https://doi.org/10.1007/s004399900059

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• Received: 04 January 1999
• Accepted: 03 April 1999
• Published: 08 July 1999
• Issue Date: August 1999
• DOI: https://doi.org/10.1007/s004399900059

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