An algorithm for genetic testing of Serbian patients with demyelinating Charcot-Marie-Tooth

Genet Test Mol Biomarkers. 2013 Jan;17(1):85-7. doi: 10.1089/gtmb.2012.0238. Epub 2012 Nov 19.

Abstract

Charcot-Marie Tooth (CMT) is a clinically and genetically heterogeneous group of diseases with rough genotype-phenotype correlation, so the final diagnosis requires extensive clinical and electrophysiological examination, family data, and gene mutation analysis. Although there is a common pattern of genetic basis of CMT, there could be some population differences that should be taken into account to facilitate analyses. Here we present the algorithm for genetic testing in Serbian patients with demyelinating CMT, based on their genetic specificities: in cases of no PMP22 duplication, and if -X-linked CMT (CMTX) is not contraindicated by pattern of inheritance (male-to-male transmission), one should test for c.94A>G GJB founder mutation, first. Also, when a patient is of Romani ethnicity, or if there is an autosomal recessive inheritance in a family and unclear ethnicity, c.442C>T mutation in NDRG1 should be tested.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms*
  • Case-Control Studies
  • Charcot-Marie-Tooth Disease / diagnosis
  • Charcot-Marie-Tooth Disease / ethnology
  • Charcot-Marie-Tooth Disease / genetics*
  • Demyelinating Diseases / diagnosis*
  • Demyelinating Diseases / ethnology
  • Demyelinating Diseases / genetics
  • Ethnicity
  • Genetic Association Studies
  • Genetic Testing
  • Humans
  • Male
  • Mutation
  • Serbia
  • White People*

Supplementary concepts

  • Charcot-Marie-Tooth disease, X-linked, 1