Mutation screening of Cx32 in Han Chinese patients with CMT

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Beijing Da Xue Xue Bao. 2005 Feb 18;37(1):68-71.

Mutation screening of Cx32 in Han Chinese patients with Charcot-Marie-Tooth

disease.

Zhang RX, Luo W, Zi XH, Xia K, Cai F, Xiao JF, Zhao GH, Zhang FF, Shen L, Jiang

H, Tang BS.

Department of Neurology, Xiangya Hospital, Changsha 410008, China.

OBJECTIVE: To investigate the Cx32 mutation features and the clinical

manifestations of Chinese patients with Charcot-Marie-Tooth disease(CMT).

METHODS: Twenty-four of 65 unrelated CMT patients were selected for Cx32

mutation screening after the exclusion of the CMT1A 1.5 Mb duplication and

male-to-male transmission. The motor and sensory nerve conduction studies were

performed in all probands and most of their affected family members to establish

the clinical CMT1 ,CMT2 or CMT intermediate diagnosis. The presence of mutations

in the coding region of Cx32 was detected by single-strand conformation

polymorphism analysis combined with direct sequencing.

RESULTS: We found 7 different point mutations in the coding region of Cx32 in a

total of 7 families. All the patients were mildly to moderately affected with a

clinical CMT1 or CMT intermediate diagnosis. The mutation Arg15Gln was inherited

with X-linked recessive trait in family 1 involved in our study. The Arg75Trp

mutation was detected in a family with X-linked dominant CMT and autosomal

recessive nonsydromic hearing loss. The clinical phenotype of the Thr188Ala

mutation was firstly reported.

CONCLUSION: Seven different Cx32 point mutations were detected and the

percentage of Chinese CMT families with Cx32 mutation is about 10% in our study.

The inheritance model of CMT secondary to Cx32 mutation could be X-linked

dominant, X-linked recessive or sporadic. Male patients are usually more

severely affected than females with slower nerve conduction velocities. Cx32

mutation screening should be firstly performed in those CMT families without

male-to-male transmission and CMT1A duplication.

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