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Human Genetics : Volume 104

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

Content Provider	Springer Nature Link
Author	Yamamoto, Toshiyuki Nanba, Eiji Nimiya, Haruaki Higaki, Katsumi Taniguchi, Miyako Zhang, Haidi Akaboshi, Shinjiro Watanabe, Yasuhiro Takeshima, Takao Inui, Koji Okada, Shintaro Tanaka, Akemi Sakuragawa, rio Millat, Gilles Vanier, Marie T. Morris, Jill A. Pentchev, Peter G. Oh, Kousaku
Copyright Year	1999
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.
Starting Page	10
Ending Page	16
Page Count	7
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	105
Issue Number	1-2
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	1999-07-08
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Human Genetics Molecular Medicine Gene Function Metabolic Diseases
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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