Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population.
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.
Howard
Heidi C
HC
Centre for Research in Neuroscience, Montreal General Hospital, Montréal, Québec, Canada.
Dubé
Marie-Pierre
MP
Prévost
Claude
C
Bouchard
Jean-Pierre
JP
Mathieu
Jean
J
Rouleau
Guy A
GA
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
D017630:Connexins; D005136:Eye Proteins; D000097004:Gap Junction delta-2 Protein