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. doi: 10.1086/301931.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Carrier Proteins*
  • Chromosomes, Human, Pair 13
  • DNA Mutational Analysis
  • Genetic Linkage / genetics
  • Humans
  • Lysosomal Storage Diseases / genetics
  • Membrane Glycoproteins*
  • Niemann-Pick Diseases / classification
  • Niemann-Pick Diseases / genetics*
  • Nova Scotia
  • Point Mutation / genetics
  • Polymerase Chain Reaction
  • Proteins / genetics*

Substances

  • Carrier Proteins
  • Membrane Glycoproteins
  • NPC1 protein, human
  • Proteins