title: Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2.
abstract: 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.
authors.affiliation: Neurobiology Laboratory, ANZAC Research Institute, University of Sydney, New South Wales 2139, Australia. marinak@med.usyd.edu.au
authors.forename: M L
authors.initials: ML
authors.lastname: Kennerson
authors.forename: D
authors.initials: D
authors.lastname: Zhu
authors.forename: R J
authors.initials: RJ
authors.lastname: Gardner
authors.forename: E
authors.initials: E
authors.lastname: Storey
authors.forename: J
authors.initials: J
authors.lastname: Merory
authors.forename: S P
authors.initials: SP
authors.lastname: Robertson
authors.forename: G A
authors.initials: GA
authors.lastname: Nicholson
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008969:Molecular Sequence Data; D010375:Pedigree; D011995:Recombination, Genetic / Q000235:genetics