New mutation in the connexin 32 gene was found in Charcot-Marie-Tooth disease in Chinese patients

Objective: To investigate the characteristics of gene mutations of connexin 32 exon 2 in Charcot-Marie-Tooth disease in Chinese patients. Methods: Screening for connexin 32 gene mutation was conducted in 6 unrelated CMT1 patients without duplication and 10 unrelated CMT2 patients. Mobility shift of exon 2 was analyzed by SSCP and further confirmed by sequencing. The PCR products were cut by appropriate restricted enzyme in 50 normal controls. Results: One missense mutation at nucleotides 62(G-&gtA) was found in a CMT1 patient. 50 normal controls were analyzed by the enzyme Hae III and no abnormality was found. This proved that the mutation was the cause of disease. Conclusion: This mutation has not been reported previously. A proportion of CMTX patients may exist in the group of CMT1 patients in China.