A 71-nucleotide Deletion in the Periaxin Gene in an Italian Patient With Late-Onset Slowly Progressive Demyelinating CMT

Background: Charcot-Marie-Tooth (CMT) constitutes a group of heterogeneous hereditary motor and sensor neuropathies. Mutations in in the periaxin (PRX) gene cause CMT4F with an autosomal recessive (AR) early-onset demyelinating neuropathy and are extremely rare in non Romani Caucasian population. Methods: We report on a 66 years-old Italian man presenting with slowly progressive and late onset demyelinating CMT. The molecular analysis was performed by using a custom panel containing 39 genes associated with CMT phenotype. Results: The patient harbored in homozygous state the PRX 71-nucleotide deletion (c.3286_3356del71, I1096fsX17). Conclusions: This is the first report that describes such genetic mutation in a population of non-Romani origin. Keywords: Charcot-Marie-Tooth type 4F; deletion; demyelinating neuropathy; periaxin.