Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population

Eur J Hum Genet. 2002 Jul;10(7):406-12. doi: 10.1038/sj.ejhg.5200815.

Abstract

Peripheral neuropathy with or without agenesis of the corpus callosum (ACCPN [MIM 2180000]) is an autosomal recessive disease characterised by progressive sensorimotor neuropathy, mental retardation, dysmorphic features and complete or partial agenesis of the corpus callosum. The ACCPN gene was mapped in 1996 to a 4 cM region on chromosome 15. We have since collected additional French Canadian (FC) families and typed a total of 11 polymorphic markers spanning approximately 18 cM on chromosome 15. Through the use of haplotype analysis we have confirmed the presence of a founder haplotype in the FC population, and identified critical recombinants which reduce the ACCPN candidate interval to a approximately 2 cM or 1000 Kb region flanked by markers D15S1040 and ACTC. Linkage disequilibrium analysis supports the haplotype data, and suggests that the ACCPN gene lies nearest to marker D15S1232.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Agenesis of Corpus Callosum*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 15*
  • Connexins / genetics
  • DNA Mutational Analysis
  • Eye Proteins / genetics
  • Female
  • Gap Junction delta-2 Protein
  • Haplotypes
  • Humans
  • Linkage Disequilibrium
  • Male
  • Microsatellite Repeats
  • Pedigree
  • Peripheral Nervous System Diseases / genetics*
  • Quebec

Substances

  • Connexins
  • Eye Proteins