A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy

Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy. CMT falls into two main forms: the demyelinating CMT type 1 with decreased nerve conduction velocities and the axonal CMT type 2. CMT2 is further subtyped by linkage analysis into >10 loci, with eight genes identified. Recently, mutations in the mitochondrial fusion protein 2 (MFN2) gene were reported in families with CMT2A¹ and additional mutations have been detected in other studies, bringing to 42 the total number of dif f erent MFN2 mutations described thus far.^2-4 In the current study, we report a novel MFN2 mutation shared by two apparently unrelated CMT2 families originating from the same area in Southern Italy.