[A new mutation in the connexin 32 gene of a Chinese family with Charcot-Marie-Tooth disease associated with central conduction slowing]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2002 Oct;19(5):367-9.
[Article in Chinese]

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics*
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology
  • Connexins / genetics*
  • Electrophysiology
  • Evoked Potentials, Auditory, Brain Stem*
  • Female
  • Gap Junction beta-1 Protein
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Polymerase Chain Reaction / methods
  • Polymorphism, Single-Stranded Conformational
  • Sequence Analysis, DNA

Substances

  • Connexins