A genotyping study of 13 cases of early-onset Charcot-Marie-Tooth disease

A genotyping study of 13 cases of early-onset Charcot-Marie-Tooth disease

To study the clinical characteristics and genetic variation of early-onset Charcot-Marie-Tooth disease (CMT). Children with a clinical diagnosis of early-onset CMT were selected for the study. Relevant clinical data were collected, and electromyogram and CMT-related gene detection were performed and...

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Veröffentlicht in:Zhongguo dang dai er ke za zhi 2019-07, Vol.21 (7), p.670-675
Hauptverfasser: Xu, Jia-Lu, Zhang, Yi, Zhao, Cong-Ying, Jiang, Pei-Fang, Yuan, Zhe-Feng, Yu, Yong-Lin, Xia, Zhe-Zhi, Gao, Feng
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container_issue 7
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container_title Zhongguo dang dai er ke za zhi
container_volume 21
creator Xu, Jia-Lu
Zhang, Yi
Zhao, Cong-Ying
Jiang, Pei-Fang
Yuan, Zhe-Feng
Yu, Yong-Lin
Xia, Zhe-Zhi
Gao, Feng
description To study the clinical characteristics and genetic variation of early-onset Charcot-Marie-Tooth disease (CMT). Children with a clinical diagnosis of early-onset CMT were selected for the study. Relevant clinical data were collected, and electromyogram and CMT-related gene detection were performed and analyzed. A total of 13 cases of early-onset CMT were enrolled, including 9 males (69%) and 4 females (31%). The mean age at consultation was 4.0±2.1 years. Among them, 12 children (92%) had an age of onset less than 2 years, 9 children (69%) were diagnosed with CMT type 1 (including 6 cases of Dejerine-Sottas syndrome), 1 child (8%) with intermediate form of CMT, and 3 children (23%) with CMT type 2. The genetic test results of these 13 children showed 6 cases (46%) of PMP22 duplication mutation, 3 cases (23%) of MPZ gene insertion mutation and point mutation, 3 cases (23%) of MFN2 gene point mutation, and 1 case (8%) of NEFL gene point mutation. Eleven cases (85%) carried known pathogenic mutations and 2 cases (
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Children with a clinical diagnosis of early-onset CMT were selected for the study. Relevant clinical data were collected, and electromyogram and CMT-related gene detection were performed and analyzed. A total of 13 cases of early-onset CMT were enrolled, including 9 males (69%) and 4 females (31%). The mean age at consultation was 4.0±2.1 years. Among them, 12 children (92%) had an age of onset less than 2 years, 9 children (69%) were diagnosed with CMT type 1 (including 6 cases of Dejerine-Sottas syndrome), 1 child (8%) with intermediate form of CMT, and 3 children (23%) with CMT type 2. The genetic test results of these 13 children showed 6 cases (46%) of PMP22 duplication mutation, 3 cases (23%) of MPZ gene insertion mutation and point mutation, 3 cases (23%) of MFN2 gene point mutation, and 1 case (8%) of NEFL gene point mutation. 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title A genotyping study of 13 cases of early-onset Charcot-Marie-Tooth disease
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