Abstract | 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.
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Authors | Wei Luo, Beisha Tang, Guohua Zhao, Kun Xia, Yi Yang, Jianfeng Xiao, Xinxiang Yan, Jiahui Xia |
Journal | Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
(Zhonghua Yi Xue Yi Chuan Xue Za Zhi)
Vol. 19
Issue 5
Pg. 367-9
(Oct 2002)
ISSN: 1003-9406 [Print] China |
PMID | 12362307
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Asian People
(genetics)
- Charcot-Marie-Tooth Disease
(genetics, physiopathology)
- Connexins
(genetics)
- Electrophysiology
- Evoked Potentials, Auditory, Brain Stem
- Female
- Humans
- Male
- Mutation
- Pedigree
- Polymerase Chain Reaction
(methods)
- Polymorphism, Single-Stranded Conformational
- Sequence Analysis, DNA
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