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

Bin Chen,Wei Li,Songtao Niu,Hongfei Tai,Hua Pan,Zaiqiang Zhang,Xingao Wang,Yuting Ren,Yuzhi Shi,Na Chen

doi:10.3389/fneur.2021.734515

Abstract

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.

Highlights

Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system (PNS)
myelin protein zero (MPZ) mutations are responsible for autosomal dominant Charcot-MarieTooth disease (CMT), which can be divided into CMT1B, CMT2I, and Dejerine-Sottas syndrome, based on the clinical and electrophysiological characteristics
We investigated six probands with inherited peripheral neuropathies associated with MPZ variants, who visited a single medical center

Summary

Introduction

Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system (PNS). It is characterized by slow-progressing weakness, muscle atrophy, and sensory impairment, with the symptoms being most evident in the distal part of the legs [1]. MPZ mutations are responsible for autosomal dominant CMT, which can be divided into CMT1B, CMT2I, and Dejerine-Sottas syndrome, based on the clinical and electrophysiological characteristics. These are found in 4.1–5% of all CMT patients [6]

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Conclusion