The Nova Scotia (Type D) Form of Niemann-Pick Disease Is Caused by a G 3097→T Transversion in NPC1

Niemann-Pick type D (NPD) disease is a progressive neurodegenerative disorder characterized by the accumulation of tissue cholesterol and sphingomyelin. This disorder is relatively common in southwestern Nova Scotia, because of a founder effect. Our previous studies, using classic linkage analysis o...

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Bibliographic Details
Published in:American journal of human genetics 1998, Vol.63 (1), p.52-54
Main Authors: Greer, W.L., Riddell, D.C., Gillan, T.L., Girouard, G.S., Sparrow, S.M., Byers, D.M., Dobson, M.J., Neumann, P.E.
Format: Article
Language:English
Subjects:
Mutation analysis
Niemann-Pick type D
Point mutation
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Summary:Niemann-Pick type D (NPD) disease is a progressive neurodegenerative disorder characterized by the accumulation of tissue cholesterol and sphingomyelin. This disorder is relatively common in southwestern Nova Scotia, because of a founder effect. Our previous studies, using classic linkage analysis of this large extended kindred, defined the critical gene region to a 13-cM chromosome segment between D18S40 and D18S66. A recently isolated gene from this region, NPC1, is mutated in the majority of patients with Niemann-Pick type C disease. We have identified a point mutation within this gene (G 3097→T; Gly 992→Trp) that shows complete linkage disequilibrium with NPD, confirming that NPD is an allelic variant of NPC1.
ISSN:0002-9297
1537-6605
DOI:10.1086/301931