Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2

The hereditary disorders of peripheral nerve form one of the most common gr oups of human genetic diseases, collectively called Charcot-Marie-Tooth (CM T) neuropathy. Using linkage analysis we have identified a new locus for a form of CMT that we have called "(d) under bar ominant intermediate CMT" (D I-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 re combination fraction (theta) of 0, at D19S221 and maximum LOD score 5.28, t heta =0, at D19S226). Haplotype analysis performed with 14 additional marke rs placed the D1-CMT locus within a 16.8-cM region flanked by the markers D 19S586 and D19S546. Multipoint linkage analysis suggested the most likely l ocation at D19S226 (maximum multipoint LOD score 6.77), within a 10-cM conf idence interval. This study establishes the presence of a locus for DI-CMT on chromosome 19p12-p13.2.