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.


CONCLUSIONS
This mutation has not been reported previously. A proportion of CMTX patients may exist in the group of CMT1 patients in China.
Da
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Department of Neuromuscular Disorder Research, the General Hospital of PLA,Beijing, 100853 P.R.China. dayuwei@hotmail.com
Shen
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D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D017630:Connexins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D000097002:Gap Junction beta-1 Protein
D017630:Connexins; D000097002:Gap Junction beta-1 Protein