X-linked dominant Charcot-Marie-Tooth neuropathy with 15 cases in a family genetic linkage study

A large CMT family with 5 affected males and 10 affected females of 37 members in four generations was investigated by recombinant DNA studies. The proband patient in his original description of the pedigree indicated male-to- male transmission in one of his relatives, suggesting autosomal dominant inheritance. The genetic linkage study between the CMT locus and the loci of six markers mapped on chromosome 1 (FY, APCS, AT3, REN, APOA2, and GBA) gave negative results. These findings prompted further pedigree investigation which proved that male-to-male transmission was not present. A genetic linkage study with DXYS1, which is a DNA marker mapped on the long arm of the chromosome X, revealed tight linkage with z = 3.15 at theta = 0.10.