[A 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-->A) was found in a CMT1 patient. 50 normal controls were analyzed by the enzyme HaeIII 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.