title: Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population.
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.
authors.affiliation: Centre for Research in Neuroscience, Montreal General Hospital, Montréal, Québec, Canada.
authors.forename: Heidi C
authors.initials: HC
authors.lastname: Howard
authors.forename: Marie-Pierre
authors.initials: MP
authors.lastname: Dubé
authors.forename: Claude
authors.initials: C
authors.lastname: Prévost
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Bouchard
authors.forename: Jean
authors.initials: J
authors.lastname: Mathieu
authors.forename: Guy A
authors.initials: GA
authors.lastname: Rouleau
mesh_terms: D061085:Agenesis of Corpus Callosum; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D017630:Connexins / Q000235:genetics; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000235:genetics*; D011792:Quebec; D000097004:Gap Junction delta-2 Protein
chemical_list: D017630:Connexins; D005136:Eye Proteins; D000097004:Gap Junction delta-2 Protein