Am J Hum Genet. 1998 Jul;63(1):52-4.

The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.

Greer WL, Riddell DC, Gillan TL, Girouard GS, Sparrow SM, Byers DM, Dobson MJ, Neumann PE.

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Department of Pathology, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia. wgreer@IS.Dal.ca

Abstract

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 (G3097-->T; Gly992-->Trp) that shows complete linkage disequilibrium with NPD, confirming that NPD is an allelic variant of NPC1.

PMID:: 9634529; [PubMed - indexed for MEDLINE]
PMCID:: PMC1377252

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Linkage disequilibrium mapping of the Nova Scotia variant of Niemann-Pick disease. [Clin Genet. 1999]
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Greer WL, Riddell DC, Murty S, Gillan TL, Girouard GS, Sparrow SM, Tatlidil C, Dobson MJ, Neumann PE. Clin Genet. 1999 Apr; 55(4):248-55.
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The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.
Am J Hum Genet. 1998 Jul ;63(1):52-4.

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