Connexin 32 Mutation (New Research) - from China

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1: Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2002 Oct;19(5):367-9

[A new mutation in the connexin 32 gene of a Chinese family with

Charcot-Marie-Tooth disease associated with central conduction slowing]

Luo W, Tang B, Zhao G, Xia K, Yang Y, Xiao J, Yan X, Xia J.

Department of Neurology, Xiangya Hospital, Central South University,

Changsha, Hunan, 410008 P.R. China. tangbeisha@...

OBJECTIVE: To report a Chinese Charcot-Marie-Tooth disease (CMT) family

whose proband had abnormal brainstem auditory evoked potentials (BAEPs)

and to study its relationship with connexin 32 (Cx32) gene mutation.

METHODS: All family members were studied through clinical examinations,

out of them, the proband was subjected to

electromyography and BAEPs examination. Mutation analysis of Cx32 was

screened by

polymerase chain reaction-single strand conformation polymorphism

(PCR-SSCP) combined

with DNA direct sequencing in the proband, 8 family members and 50

unrelated normal individuals. RESULTS: The proband had highly decreased

nerve conduction velocities and delayed BAEPs. Leu131Pro mutation was

found in the proband and 3 family members, not found in 50 normal

controls. CONCLUSION: This mutation has not been reported

previously. Central nervous system can be affected in CMT patients.