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

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

W L Greer et al. Am J Hum Genet. 1998 Jul.

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.

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