Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients
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 r...
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Frontiers Media S.A.
2021
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oai:doaj.org-article:f6d8e57eec7144c499ff9d4b927a1e4f2021-12-02T05:58:18ZTwo Novel Myelin Protein Zero Mutations in a Group of Chinese Patients1664-229510.3389/fneur.2021.734515https://doaj.org/article/f6d8e57eec7144c499ff9d4b927a1e4f2021-12-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fneur.2021.734515/fullhttps://doaj.org/toc/1664-2295Mutations 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.Bin ChenBin ChenZaiqiang ZhangZaiqiang ZhangNa ChenNa ChenWei LiWei LiWei LiHua PanHua PanXingao WangXingao WangYuting RenYuting RenYuzhi ShiYuzhi ShiHongfei TaiHongfei TaiSongtao NiuSongtao NiuFrontiers Media S.A.articlemyelin protein zeroCharcot-Marie-Tooth diseasespectrumChineseJapaneseKoreansNeurology. Diseases of the nervous systemRC346-429ENFrontiers in Neurology, Vol 12 (2021) |
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| topic |
myelin protein zero Charcot-Marie-Tooth disease spectrum Chinese Japanese Koreans Neurology. Diseases of the nervous system RC346-429 |
| spellingShingle |
myelin protein zero Charcot-Marie-Tooth disease spectrum Chinese Japanese Koreans Neurology. Diseases of the nervous system RC346-429 Bin Chen Bin Chen Zaiqiang Zhang Zaiqiang Zhang Na Chen Na Chen Wei Li Wei Li Wei Li Hua Pan Hua Pan Xingao Wang Xingao Wang Yuting Ren Yuting Ren Yuzhi Shi Yuzhi Shi Hongfei Tai Hongfei Tai Songtao Niu Songtao Niu Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients |
| description |
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. |
| format |
article |
| author |
Bin Chen Bin Chen Zaiqiang Zhang Zaiqiang Zhang Na Chen Na Chen Wei Li Wei Li Wei Li Hua Pan Hua Pan Xingao Wang Xingao Wang Yuting Ren Yuting Ren Yuzhi Shi Yuzhi Shi Hongfei Tai Hongfei Tai Songtao Niu Songtao Niu |
| author_facet |
Bin Chen Bin Chen Zaiqiang Zhang Zaiqiang Zhang Na Chen Na Chen Wei Li Wei Li Wei Li Hua Pan Hua Pan Xingao Wang Xingao Wang Yuting Ren Yuting Ren Yuzhi Shi Yuzhi Shi Hongfei Tai Hongfei Tai Songtao Niu Songtao Niu |
| author_sort |
Bin Chen |
| title |
Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients |
| title_short |
Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients |
| title_full |
Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients |
| title_fullStr |
Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients |
| title_full_unstemmed |
Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients |
| title_sort |
two novel myelin protein zero mutations in a group of chinese patients |
| publisher |
Frontiers Media S.A. |
| publishDate |
2021 |
| url |
https://doaj.org/article/f6d8e57eec7144c499ff9d4b927a1e4f |
| work_keys_str_mv |
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