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. 1993 Sep;5(1):31-4.
doi: 10.1038/ng0993-31.

Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

K Hayasaka  1 , M Himoro, W Sato, G Takada, K Uyemura, N Shimizu, T D Bird, P M Conneally, P F Chance
Affiliations

Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

K Hayasaka et al. Nat Genet. 1993 Sep.

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 (Z = 5.5, theta = 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.

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