The characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease

Fu Feng Zhang, Bei Sha Tang, Guo Hua Zhao, Wei Luo, Kun Xia, Xiao Min Liu, Jianfeng Xiao, Ru Xu Zhang, Biao Chen, Cheng Hang, Qian Pan, Fang Cai, Peng Guo

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Objective: To study the characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease (CMT). Methods: Real-time quantitative PCR, PCR-SSCP, and/or direct sequencing were used to analyze the mutation of the pathogenic genes PMP22, MPZ, CX32, EGR2, GDAP1, NEFL, HSP22 and HSP27 in 113 probands of CMT families, 45 of which had family history, from different provinces in China. The whole family members of the subjects with abnormal electrophoretic bands and 50 normal controls underwent the same examination. Results: Thirty-six cases of PMP22 duplication, 7 cases of CX32 mutation, 1 case of HSP22 mutation, 1 case of HSP27 mutation, 1 case of MPZ mutation, and 1 case of GDAP1 mutation were found in the 113 CMT probands. No point mutation was found in PMP22, EGR2 and NEFL genes. Conclusion: Among the Chinese CMT patients 31.9% are caused by PMP22 duplication, 6.2% by CX32, and 0.9% by HSP22, HSP27, MPZ and GDAP1. Point mutations of PMP22, EGR2 and NEFL are rare.

Original languageEnglish (US)
Pages (from-to)1809-1812
Number of pages4
JournalNational Medical Journal of China
Volume85
Issue number26
StatePublished - Jul 13 2005

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Charcot-Marie-Tooth Disease
Mutation
Genes
Point Mutation
Single-Stranded Conformational Polymorphism
Real-Time Polymerase Chain Reaction
China
Polymerase Chain Reaction

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Zhang, F. F., Tang, B. S., Zhao, G. H., Luo, W., Xia, K., Liu, X. M., ... Guo, P. (2005). The characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease. National Medical Journal of China, 85(26), 1809-1812.

The characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease. / Zhang, Fu Feng; Tang, Bei Sha; Zhao, Guo Hua; Luo, Wei; Xia, Kun; Liu, Xiao Min; Xiao, Jianfeng; Zhang, Ru Xu; Chen, Biao; Hang, Cheng; Pan, Qian; Cai, Fang; Guo, Peng.

In: National Medical Journal of China, Vol. 85, No. 26, 13.07.2005, p. 1809-1812.

Research output: Contribution to journalArticle

Zhang, FF, Tang, BS, Zhao, GH, Luo, W, Xia, K, Liu, XM, Xiao, J, Zhang, RX, Chen, B, Hang, C, Pan, Q, Cai, F & Guo, P 2005, 'The characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease', National Medical Journal of China, vol. 85, no. 26, pp. 1809-1812.
Zhang FF, Tang BS, Zhao GH, Luo W, Xia K, Liu XM et al. The characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease. National Medical Journal of China. 2005 Jul 13;85(26):1809-1812.
Zhang, Fu Feng ; Tang, Bei Sha ; Zhao, Guo Hua ; Luo, Wei ; Xia, Kun ; Liu, Xiao Min ; Xiao, Jianfeng ; Zhang, Ru Xu ; Chen, Biao ; Hang, Cheng ; Pan, Qian ; Cai, Fang ; Guo, Peng. / The characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease. In: National Medical Journal of China. 2005 ; Vol. 85, No. 26. pp. 1809-1812.
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abstract = "Objective: To study the characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease (CMT). Methods: Real-time quantitative PCR, PCR-SSCP, and/or direct sequencing were used to analyze the mutation of the pathogenic genes PMP22, MPZ, CX32, EGR2, GDAP1, NEFL, HSP22 and HSP27 in 113 probands of CMT families, 45 of which had family history, from different provinces in China. The whole family members of the subjects with abnormal electrophoretic bands and 50 normal controls underwent the same examination. Results: Thirty-six cases of PMP22 duplication, 7 cases of CX32 mutation, 1 case of HSP22 mutation, 1 case of HSP27 mutation, 1 case of MPZ mutation, and 1 case of GDAP1 mutation were found in the 113 CMT probands. No point mutation was found in PMP22, EGR2 and NEFL genes. Conclusion: Among the Chinese CMT patients 31.9{\%} are caused by PMP22 duplication, 6.2{\%} by CX32, and 0.9{\%} by HSP22, HSP27, MPZ and GDAP1. Point mutations of PMP22, EGR2 and NEFL are rare.",
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AB - Objective: To study the characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease (CMT). Methods: Real-time quantitative PCR, PCR-SSCP, and/or direct sequencing were used to analyze the mutation of the pathogenic genes PMP22, MPZ, CX32, EGR2, GDAP1, NEFL, HSP22 and HSP27 in 113 probands of CMT families, 45 of which had family history, from different provinces in China. The whole family members of the subjects with abnormal electrophoretic bands and 50 normal controls underwent the same examination. Results: Thirty-six cases of PMP22 duplication, 7 cases of CX32 mutation, 1 case of HSP22 mutation, 1 case of HSP27 mutation, 1 case of MPZ mutation, and 1 case of GDAP1 mutation were found in the 113 CMT probands. No point mutation was found in PMP22, EGR2 and NEFL genes. Conclusion: Among the Chinese CMT patients 31.9% are caused by PMP22 duplication, 6.2% by CX32, and 0.9% by HSP22, HSP27, MPZ and GDAP1. Point mutations of PMP22, EGR2 and NEFL are rare.

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