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

Ru xu Zhang, Wei Luo, Xiao hong Zi, Kun Xia, Fang Cai, Jianfeng Xiao, Guo hua Zhao, Fu feng Zhang, L. Shen, Hong Jiang, Bei sha Tang

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)68-71
Number of pages4
JournalBeijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences
Volume37
Issue number1
StatePublished - Jan 1 2005
Externally publishedYes

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Charcot-Marie-Tooth Disease
Mutation
Neural Conduction
Point Mutation
X-Linked Genes
Hearing Loss
Phenotype

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Mutation screening of Cx32 in Han Chinese patients with Charcot-Marie-Tooth disease. / Zhang, Ru xu; Luo, Wei; Zi, Xiao hong; Xia, Kun; Cai, Fang; Xiao, Jianfeng; Zhao, Guo hua; Zhang, Fu feng; Shen, L.; Jiang, Hong; Tang, Bei sha.

In: Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences, Vol. 37, No. 1, 01.01.2005, p. 68-71.

Research output: Contribution to journalArticle

Zhang, RX, Luo, W, Zi, XH, Xia, K, Cai, F, Xiao, J, Zhao, GH, Zhang, FF, Shen, L, Jiang, H & Tang, BS 2005, 'Mutation screening of Cx32 in Han Chinese patients with Charcot-Marie-Tooth disease.', Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences, vol. 37, no. 1, pp. 68-71.
Zhang, Ru xu ; Luo, Wei ; Zi, Xiao hong ; Xia, Kun ; Cai, Fang ; Xiao, Jianfeng ; Zhao, Guo hua ; Zhang, Fu feng ; Shen, L. ; Jiang, Hong ; Tang, Bei sha. / Mutation screening of Cx32 in Han Chinese patients with Charcot-Marie-Tooth disease. In: Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences. 2005 ; Vol. 37, No. 1. pp. 68-71.
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abstract = "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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AU - Xia, Kun

AU - Cai, Fang

AU - Xiao, Jianfeng

AU - Zhao, Guo hua

AU - Zhang, Fu feng

AU - Shen, L.

AU - Jiang, Hong

AU - Tang, Bei sha

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N2 - 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.

AB - 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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