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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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2021-12-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2021.734515/full |
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| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-13T17:11:46Z |
| format | Article |
| id | doaj.art-f6d8e57eec7144c499ff9d4b927a1e4f |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-12-13T17:11:46Z |
| publishDate | 2021-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-f6d8e57eec7144c499ff9d4b927a1e4f2022-12-21T23:37:31ZengFrontiers Media S.A.Frontiers in Neurology1664-22952021-12-011210.3389/fneur.2021.734515734515Two Novel Myelin Protein Zero Mutations in a Group of Chinese PatientsBin Chen0Bin Chen1Zaiqiang Zhang2Zaiqiang Zhang3Na Chen4Na Chen5Wei Li6Wei Li7Wei Li8Hua Pan9Hua Pan10Xingao Wang11Xingao Wang12Yuting Ren13Yuting Ren14Yuzhi Shi15Yuzhi Shi16Hongfei Tai17Hongfei Tai18Songtao Niu19Songtao Niu20Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, ChinaChina National Clinical Research Center for Neurological Diseases, Beijing, ChinaDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, ChinaChina National Clinical Research Center for Neurological Diseases, Beijing, ChinaDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, ChinaChina National Clinical Research Center for Neurological Diseases, Beijing, ChinaDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, ChinaChina National Clinical Research Center for Neurological Diseases, Beijing, ChinaMonogenic Disease Diagnosis Center for Neurological Disorders, Precision Medicine Research Center for Neurological Disorders, Beijing, ChinaDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, ChinaChina National Clinical Research Center for Neurological Diseases, Beijing, ChinaDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, ChinaChina National Clinical Research Center for Neurological Diseases, Beijing, ChinaDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, ChinaChina National Clinical Research Center for Neurological Diseases, Beijing, ChinaDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, ChinaChina National Clinical Research Center for Neurological Diseases, Beijing, ChinaDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, ChinaChina National Clinical Research Center for Neurological Diseases, Beijing, ChinaDepartment of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, ChinaChina National Clinical Research Center for Neurological Diseases, Beijing, ChinaMutations 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.https://www.frontiersin.org/articles/10.3389/fneur.2021.734515/fullmyelin protein zeroCharcot-Marie-Tooth diseasespectrumChineseJapaneseKoreans |
| spellingShingle | 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 Frontiers in Neurology myelin protein zero Charcot-Marie-Tooth disease spectrum Chinese Japanese Koreans |
| title | 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_short | 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 |
| topic | myelin protein zero Charcot-Marie-Tooth disease spectrum Chinese Japanese Koreans |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2021.734515/full |
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