Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2

Am J Hum Genet. 2001 Oct;69(4):883-8. doi: 10.1086/323743. Epub 2001 Aug 28.


The hereditary disorders of peripheral nerve form one of the most common groups of human genetic diseases, collectively called Charcot-Marie-Tooth (CMT) neuropathy. Using linkage analysis we have identified a new locus for a form of CMT that we have called "dominant intermediate CMT" (DI-CMT). A genomewide screen using 383 microsatellite markers showed strong linkage to the short arm of chromosome 19 (maximum LOD score 4.3, with a recombination fraction (straight theta) of 0, at D19S221 and maximum LOD score 5.28, straight theta=0, at D19S226). Haplotype analysis performed with 14 additional markers placed the DI-CMT locus within a 16.8-cM region flanked by the markers D19S586 and D19S546. Multipoint linkage analysis suggested the most likely location at D19S226 (maximum multipoint LOD score 6.77), within a 10-cM confidence interval. This study establishes the presence of a locus for DI-CMT on chromosome 19p12-p13.2.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 19 / genetics*
  • Female
  • Gene Frequency / genetics
  • Genes, Dominant / genetics*
  • Haplotypes / genetics
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats / genetics
  • Molecular Sequence Data
  • Pedigree
  • Recombination, Genetic / genetics

Associated data

  • GENBANK/AB023656
  • GENBANK/AF139463
  • GENBANK/D10537
  • GENBANK/D90501
  • GENBANK/L03203
  • GENBANK/X05608
  • OMIM/118210
  • OMIM/118220
  • OMIM/302800
  • OMIM/600882
  • OMIM/601472
  • OMIM/606071
  • RefSeq/NM_003912
  • RefSeq/XM_043533
  • RefSeq/XM_047407
  • RefSeq/XM_047682
  • RefSeq/XM_051273