Objective: To study the Cx32 gene mutation in a X-linked recessive Charcot-Marie-Tooth disease (CMTXR) family.
Methods: Mutation analysis of Cx32 was screened by polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) combined with DNA direct sequencing in 4 patients, 9 unaffected family members and 50 unrelated normal individuals.
Results: Arg15Gln mutation was found in 4 patients and 3 unaffected family members.
Conclusion: The mutation of Cx32 can also cause CMTXR. Using PCR-SSCP combined with DNA direct sequencing can make gene diagnosis to CMTXR that is caused by Cx32 mutation.