A new mutation in the connexin 32 gene of a Chinese family with Charcot-Marie-Tooth disease associated with central conduction slowing.
- Author:
Wei LUO
1
;
Beisha TANG
;
Guohua ZHAO
;
Kun XIA
;
Yi YANG
;
Jianfeng XIAO
;
Xinxiang YAN
;
Jiahui XIA
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; 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
- From: Chinese Journal of Medical Genetics 2002;19(5):367-369
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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.
METHODSAll 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.
RESULTSThe 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.
CONCLUSIONThis mutation has not been reported previously. Central nervous system can be affected in CMT patients.
