Two novel <i>MPZ</i> mutations in Chinese CMT patients

Liu, Lei; Li, Xiaobo; Zi, Xiaohong; Huang, Shunxiang; Zhan, Yajing; Jiang, Mingming; Guo, Jifeng; Xia, Kun; Tang, Beisha; Zhang, Ruxu

doi:10.1111/jns5.12040

Cited by 11 publications

(10 citation statements)

References 19 publications

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“…We searched the PubMed database using the terms "MPZ" and "Chinese" and excluded patients who may have been associated with previous reports based on the research team and publication time. We then summarized the MPZ mutational spectra and clinical characteristics of 35 families of unrelated Chinese origin (9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20). The total mutations summarized in the Chinese patients with MPZ mutations are shown in Table 3.…”

Section: Discussionmentioning

confidence: 99%

“…Previous studies have shown that the spectra and frequencies of MPZ mutations in Caucasian and Japanese cohorts are different (7). Several studies have reported Chinese patients with MPZ mutations, but it is currently unknown whether there are differences in the spectra of MPZ mutations between Chinese and other ethnicities (9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20). Herein, we report the mutational spectrum and clinical features of six unrelated Chinese families with MPZ in our hospital over a 7 years period.…”

Section: Introductionmentioning

confidence: 93%

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Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients

et al. 2021

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Mutations in the myelin protein zero gene are responsible for the autosomal dominant Charcot-Marie-Tooth disease (CMT). We summarized the genetic and clinical features of six unrelated Chinese families and the genetic spectrum of Chinese patients with myelin protein zero (MPZ) mutations. Our study reports data from a group of Chinese patients consisting of five males and one female with the age of disease onset ranging from 16 to 55 years. The initial symptom in all the patients was the weakness of the lower limbs. Electrophysiological presentations suggested chronic progressive sensorimotor demyelinating polyneuropathy. Overall six mutations were identified in the cohort, including four known mutations [c.103G>T (p.D35Y), c.233C>T (p.S78L), c.293G>A (p.R98H), and c.449-1G>T], and two novel mutations [c.67+4A>G with a mild CMT1B phenotype, and (c.79delG) p.A27fs with a rapidly progressive CMT1B phenotype]. According to the literature review, there are 35 Chinese families with 28 different MPZ mutations. The MPZ mutational spectrum in Chinese patients is very heterogeneous and differs from that of Japanese and Korean individuals, although they do share several common hot spot mutations.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 93%

Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients

et al. 2021

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“…To date, more than 240 different MPZ mutations have been identified (http://www.hgmd.cf.ac.uk/ ac/gene.php?gene=MPZ). MPZ mutations account for ~5% of patients with CMT and are the fourth most common genotype of CMT [5,11,12]. The natural history and genotype-phenotype correlations of MPZ-related neuropathies in the Chinese population remain entirely unclear.…”

Section: Introductionmentioning

confidence: 99%

Genotype–phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients

Liu

Lin

et al. 2023

Euro J of Neurology

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Background and purpose:The aim was to characterize the phenotypic and genotypic features of myelin protein zero (MPZ) related neuropathy and provide baseline data for longitudinal natural history studies or drug clinical trials. Method: Clinical, neurophysiological and genetic data of 37 neuropathy patients with MPZ mutations were retrospectively collected. Results: Nineteen different MPZ mutations in 23 unrelated neuropathy families were detected, and the frequency of MPZ mutations was 5.84% in total. Mutations c.103_104InsTGGTTTACACCG, c.513dupG, c.521_557del and c.696_699delCAGT had not been reported previously. Hot spot mutation p.Thr124Met was detected in four unrelated families, and seven patients carried de novo mutations. The onset age indicated a bimodal distribution: prominent clustering in the first and fourth decades. The infantile-onset group included 12 families, the childhood-onset group consisted of two families and the adult-onset group included nine families. The Charcot-Marie-Tooth Disease Neuropathy Score ranged from 3 to 25 with a mean value of 15.85 ± 5.88. Mutations that changed the cysteine residue (p.Arg98Cys, p.Cys127Trp, p.Ser140Cys and p.Cys127Arg) in the extracellular region were more likely to cause severe early-onset Charcot-Marie-Tooth disease type 1B (CMT1B) or Dejerine-Sottas syndrome. Nonsense-mediated mRNA decay mutations p.Asp35delInsVVYTD, p.Leu174Argfs*66 and p.Leu172Alafs*63 were related to severe infantile-onset CMT1B or Dejerine-Sottas syndrome; however, mutation p.Val232Valfs*19was associated with a relatively milder childhood-onset CMT1 phenotype. Conclusion:Four novel MPZ mutations are reported that expand the genetic spectrum.De novo mutations accounted for 30.4% and were most related to a severe infantileonset phenotype. Genetic and clinical data from this cohort will provide the baseline data necessary for clinical trials and natural history studies.

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“…Three were classifi ed as intermediate CMT with mMNCVs ranging from 32.8 to 45 m/s [26] . It has been suggested that MPZ is the second most frequent gene resulting in intermediate CMT (Table 2).…”

Section: Electrophysiological and Pathological Studies In This Englishmentioning

confidence: 99%

Intermediate Charcot-Marie-Tooth disease

Liu

Zhang

2014

Neurosci. Bull.

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Charcot-Marie-Tooth (CMT) disease is a common neurogenetic disorder and its heterogeneity is a challenge for genetic diagnostics. The genetic diagnostic procedures for a CMT patient can be explored according to the electrophysiological criteria: very slow motor nerve conduction velocity (MNCV) (<15 m/s), slow MNCV (15-25 m/s), intermediate MNCV (25-45 m/s), and normal MNCV (>45 m/s). Based on the inheritance pattern, intermediate CMT can be divided into dominant (DI-CMT) and recessive types (RI-CMT). GJB1 is currently considered to be associated with X-linked DI-CMT, and MPZ, INF2, DNM2, YARS, GNB4, NEFL, and MFN2 are associated with autosomal DI-CMT. Moreover, GDAP1, KARS, and PLEKHG5 are associated with RI-CMT. Identifi cation of these genes is not only important for patients and families but also provides new information about pathogenesis. It is hoped that this review will lead to a better understanding of intermediate CMT and provide a detailed diagnostic procedure for intermediate CMT.

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Two novel MPZ mutations in Chinese CMT patients

Cited by 11 publications

References 19 publications

Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients

Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients

Genotype–phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients

Intermediate Charcot-Marie-Tooth disease

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