Charcot-Marie-Tooth

Dalby, Patricia L.; Coffin, Erica

doi:10.1007/978-3-319-59680-8_35

Cited by 1 publication

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References 11 publications

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“…The difficulty of the clinical diagnosis of CMT is increased due to the differences in clinical manifestations and diversity of pathogenic genes of patients with CMT and the fact that there is not an exact supplementary examination to currently support the clinical diagnosis of CMT. Clinical diagnosis is therefore dependent only on some neuroelectrophysiological and imaging detection methods; hence, these challenges increase the difficulty of diagnosis of the disease and reduce the diagnosis rate of CMT (Dalby & Coffin, 2018). The MPZ variant contributed to the increase in MPZ levels in CMT patients compared with normal people.…”

Section: Discussionmentioning

confidence: 99%

MPZ gene variant site in Chinese patients with Charcot–Marie–Tooth disease

Hao

et al. 2022

Molec Gen & Gen Med

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Background: Charcot-Marie-Tooth disease (CMT) is a hereditary monogenic peripheral nerve disease. Variants in the gene encoding myelin protein zero (MPZ) lead to CMT, and different variants have different clinical phenotypes. A variant site, namely, c.389A > G (p.Lys130Arg), in the MPZ gene has been found in Chinese people. The pathogenicity of this variant has been clarified through pedigrees, and peripheral blood-related functional studies have been conducted. Method: Whole-exome sequencing and Sanger sequencing were used to detect the c.389A > G (p.Lys130Arg) variant in the MPZ gene in family members of the proband. Physical examination was performed in the case group to assess the clinical characteristics of MPZ site variants. The expression of MPZ and phosphorylated MPZ in the blood of 12 cases and 12 randomly selected controls was compared by RT-qPCR, Western blotting, and ELISA. Results:The proband and 12 of her family members presented the AG genotype with different clinical manifestations. The expression of MPZ mRNA in the case group was increased compared with that in the control group, and the levels of MPZ and phosphorylated MPZ in peripheral blood were higher than those in normal controls. Conclusion:The heterozygous genotype of the c.389A > G (p.Lys130Arg) variant in the MPZ gene mediated the increase in MPZ and phosphorylated MPZ levels in peripheral blood and was found to be involved with CMT.

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Section: Discussionmentioning

confidence: 99%

MPZ gene variant site in Chinese patients with Charcot–Marie–Tooth disease

Hao

et al. 2022

Molec Gen & Gen Med

View full text Add to dashboard Cite

show abstract

Charcot-Marie-Tooth

Cited by 1 publication

References 11 publications

MPZ gene variant site in Chinese patients with Charcot–Marie–Tooth disease

MPZ gene variant site in Chinese patients with Charcot–Marie–Tooth disease

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