Point mutation of Cx32, MPZ and PMP22 genes in Chinese Charcot-Marie- Tooth disease

Jianfeng Xiao, B. Tang, J. Xia

Research output: Contribution to journalArticle

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Abstract

Objective To study the characteristics of the point mutations of Cx32, MPZ and PMP22 genes in Chinese Charcot-Marie-Tooth disease(CMT). Methods The coding exons of Cx32, MPZ and PMP22 genes were screened in 30 families of Chinese CMT and 50 unrelated normal persons by polymerase chain reaction- single strand conformation polymorphism. Results Four (13.3%) different point mutations (3 had been described previously) were found in 4 families (3 with X-linkage ressesive transmission). One of the point mutations, Thr188Ala, which was detected in the only X-linkage dominant transmission faintly, was a novel mutation. One mutation (3.3%) in the exon 3 of MPZ gene was identified in a CMT1 family. There were no PMP22 gene mutations in these patients. Conclusions About 16.7% CMT had point mutations in the Cx32, MPZ and PMP22 genes, and the mutations mainly belonged to Cx32 gene mutations. Mutational screening had to start with Cx32 gene in the possible X-linkage family (especially if no male-to-male transmission was observed). The low prevalence of Chinese CMT might be due to the different point mutations in these genes.

Original languageEnglish (US)
Pages (from-to)142-145
Number of pages4
JournalChinese Journal of Neurology
Volume32
Issue number3
StatePublished - Jan 1 1999
Externally publishedYes

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Charcot-Marie-Tooth Disease
Point Mutation
Genes
Mutation
Exons
Polymerase Chain Reaction

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

Cite this

Point mutation of Cx32, MPZ and PMP22 genes in Chinese Charcot-Marie- Tooth disease. / Xiao, Jianfeng; Tang, B.; Xia, J.

In: Chinese Journal of Neurology, Vol. 32, No. 3, 01.01.1999, p. 142-145.

Research output: Contribution to journalArticle

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title = "Point mutation of Cx32, MPZ and PMP22 genes in Chinese Charcot-Marie- Tooth disease",
abstract = "Objective To study the characteristics of the point mutations of Cx32, MPZ and PMP22 genes in Chinese Charcot-Marie-Tooth disease(CMT). Methods The coding exons of Cx32, MPZ and PMP22 genes were screened in 30 families of Chinese CMT and 50 unrelated normal persons by polymerase chain reaction- single strand conformation polymorphism. Results Four (13.3{\%}) different point mutations (3 had been described previously) were found in 4 families (3 with X-linkage ressesive transmission). One of the point mutations, Thr188Ala, which was detected in the only X-linkage dominant transmission faintly, was a novel mutation. One mutation (3.3{\%}) in the exon 3 of MPZ gene was identified in a CMT1 family. There were no PMP22 gene mutations in these patients. Conclusions About 16.7{\%} CMT had point mutations in the Cx32, MPZ and PMP22 genes, and the mutations mainly belonged to Cx32 gene mutations. Mutational screening had to start with Cx32 gene in the possible X-linkage family (especially if no male-to-male transmission was observed). The low prevalence of Chinese CMT might be due to the different point mutations in these genes.",
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N2 - Objective To study the characteristics of the point mutations of Cx32, MPZ and PMP22 genes in Chinese Charcot-Marie-Tooth disease(CMT). Methods The coding exons of Cx32, MPZ and PMP22 genes were screened in 30 families of Chinese CMT and 50 unrelated normal persons by polymerase chain reaction- single strand conformation polymorphism. Results Four (13.3%) different point mutations (3 had been described previously) were found in 4 families (3 with X-linkage ressesive transmission). One of the point mutations, Thr188Ala, which was detected in the only X-linkage dominant transmission faintly, was a novel mutation. One mutation (3.3%) in the exon 3 of MPZ gene was identified in a CMT1 family. There were no PMP22 gene mutations in these patients. Conclusions About 16.7% CMT had point mutations in the Cx32, MPZ and PMP22 genes, and the mutations mainly belonged to Cx32 gene mutations. Mutational screening had to start with Cx32 gene in the possible X-linkage family (especially if no male-to-male transmission was observed). The low prevalence of Chinese CMT might be due to the different point mutations in these genes.

AB - Objective To study the characteristics of the point mutations of Cx32, MPZ and PMP22 genes in Chinese Charcot-Marie-Tooth disease(CMT). Methods The coding exons of Cx32, MPZ and PMP22 genes were screened in 30 families of Chinese CMT and 50 unrelated normal persons by polymerase chain reaction- single strand conformation polymorphism. Results Four (13.3%) different point mutations (3 had been described previously) were found in 4 families (3 with X-linkage ressesive transmission). One of the point mutations, Thr188Ala, which was detected in the only X-linkage dominant transmission faintly, was a novel mutation. One mutation (3.3%) in the exon 3 of MPZ gene was identified in a CMT1 family. There were no PMP22 gene mutations in these patients. Conclusions About 16.7% CMT had point mutations in the Cx32, MPZ and PMP22 genes, and the mutations mainly belonged to Cx32 gene mutations. Mutational screening had to start with Cx32 gene in the possible X-linkage family (especially if no male-to-male transmission was observed). The low prevalence of Chinese CMT might be due to the different point mutations in these genes.

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