Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14

Am J Hum Genet. 2001 May;68(5):1270-6. doi: 10.1086/320122. Epub 2001 Apr 4.


Distal hereditary motor neuronopathy type VII (dHMN-VII) is an autosomal dominant disorder characterized by distal muscular atrophy and vocal cord paralysis. We performed a genomewide linkage search in a large Welsh pedigree with dHMN-VII and established linkage to chromosome 2q14. Analyses of a second family with dHMN-VII confirmed the location of the gene and provided evidence for a founder mutation segregating in both pedigrees. The maximum three-point LOD score in the combined pedigree was 7.49 at D2S274. Expansion of a polyalanine tract in Engrailed-1, a transcription factor strongly expressed in the spinal cord, was excluded as the cause of dHMN-VII.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 2 / genetics*
  • Female
  • Founder Effect
  • Genes, Dominant / genetics
  • Genetic Linkage / genetics*
  • Haplotypes / genetics
  • Homeodomain Proteins / genetics
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats / genetics
  • Muscular Atrophy, Spinal / genetics*
  • Muscular Atrophy, Spinal / physiopathology
  • Pedigree
  • Peptides / genetics
  • Vocal Cords / metabolism
  • Vocal Cords / physiopathology
  • Wales


  • EN1 protein, human
  • Homeodomain Proteins
  • Peptides
  • polyalanine