Charcot-Marie-Tooth neuropathy type 2A:: novel mutations in the mitofusin 2 gene (MFN2)

Background: Charcot-Marie-Tooth neuropathies are a group of genetically heterogeneous diseases of the peripheral nervous system. Mutations in the MFN2 gene have been reported as the primary cause of Charcot-Marie-Tooth disease type 2A. Methods: Patients with the clinical diagnosis of Charcot-Marie-Tooth type 2 were screened using single strand conformation polymorphism (SSCP). All DNA samples showing band shifts in the SSCP analysis were amplified from genomic DNA and cycle sequenced. Results: We analyzed a total of 73 unrelated patients with a clinical diagnosis of CMT 2. Overall, novel mutations were detected in 6 patients. c. 380G > T (G127V), c. 1128G > A ( M376I), c. 1040A > T (E347V), c. 1403G > A (R468H), c. 2113G > A (V705I), and c. 2258_2259insT (L753fs). Conclusion: We confirmed a significant role of mutations in MFN2 in the pathogenesis of Charcot-Marie-Tooth disease type 2.