Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene
- 1 September 1993
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 5 (1) , 31-34
- https://doi.org/10.1038/ng0993-31
Abstract
P0, a major structural protein of peripheral myelin, is a homophilic adhesion molecule and maps to chromosome 1q22–q23, in the region of the locus for Charcot–Marie–Tooth neuropathy type 1B (CMT1B). We have investigated P0 as a candidate gene in two pedigrees with CMT1B and found point mutations which are completely linked with the disease (ẑ=5.5, Θ=0). The mutations, glutamate substitution for lysine 96 or aspartate 90, are located in the extracellular domain, which plays a significant role in myelin membrane adhesion. Individuals with CMT1B are heterozygous for the normal allele and the mutant allele. Our results indicate that P0 is a gene responsible for CMT1B.Keywords
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