X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms

J Med Genet. 1994 Mar;31(3):193-6. doi: 10.1136/jmg.31.3.193.

Abstract

X linked dominant Charcot-Marie-Tooth disease (CMTX1) has previously been localised to Xq13-21. Fifteen families were studied using 12 highly informative polymorphisms in the pericentric region of the X chromosome. Phase known recombinations in these families localise the X linked dominant CMT gene to the region distal to DXS106 (Xq11.2-12) and proximal to DXS559 (Xq13.1). These markers flank approximately 2 to 3 Mb of DNA to which GJB1 and CCG1 have already been mapped. A recent report of mutations in the GJB1 gene in subjects with CMTX1 makes this a strong candidate gene.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Cell Cycle
  • Charcot-Marie-Tooth Disease / genetics*
  • Chromosome Mapping
  • Connexins / genetics*
  • Female
  • Gap Junction beta-1 Protein
  • Genes, Dominant
  • Genetic Linkage
  • Humans
  • Male
  • Polymorphism, Restriction Fragment Length*
  • Recombination, Genetic
  • X Chromosome*

Substances

  • Connexins