A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype

Rev Biol Trop. 2014 Dec;62(4):1285-93. doi: 10.15517/rbt.v62i4.13473.


The p.Thr124Met mutation in the myelin protein zero (MPZ) causes the Charcot-Marie-Tooth disease type 2J, a peripheral neuropathy with additional symptoms as pupillary alterations and deafness. It was observed in several families around the world originating e. g. from Germany, Belgium, Japan, Italy and North America. Here we report Central American patients originating from a family in Costa Rica carrying this mutation. Clinical, electrophysiological and molecular analysis of patients and controls were performed, including gene and linked markers' sequencing. Carriers share almost the entire haplotype with two non related Belgian CMT patients. As a result of the haplotype analysis, based on ten markers (seven SNPs, two microsatellites and an intronic polyA stretch), the founder effect hypothesis for this allele migration is suggestive.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Case-Control Studies
  • Charcot-Marie-Tooth Disease / ethnology
  • Charcot-Marie-Tooth Disease / genetics*
  • Costa Rica
  • Female
  • Founder Effect
  • Haplotypes
  • Hearing Loss, Sensorineural / ethnology
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Male
  • Middle Aged
  • Myelin P0 Protein / genetics*
  • Pedigree
  • Point Mutation / genetics*
  • Young Adult


  • Myelin P0 Protein

Supplementary concepts

  • Charcot-Marie-Tooth disease, Type 2J