A genotyping study of 13 cases of early-onset Charcot-Marie-Tooth disease / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 670-675, 2019.
Article
in Zh
| WPRIM
| ID: wpr-775126
Responsible library:
WPRO
ABSTRACT
OBJECTIVE@#To study the clinical characteristics and genetic variation of early-onset Charcot-Marie-Tooth disease (CMT).@*METHODS@#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.@*RESULTS@#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 (15%) had novel mutations. The new variant c.394C>G (p.P132A) of the MPZ gene was rated as "possibly pathogenic" and the new variant c.326A>G (p.K109R) of the MFN2 gene was rated as "pathogenic".@*CONCLUSIONS@#Early-onset CMT is mainly caused by PMP22 gene duplication mutation and MPZ gene mutations. The clinical phenotype is mainly CMT type 1, among which Dejerine-Sottas syndrome accounts for a considerable proportion.
Full text:
1
Index:
WPRIM
Main subject:
Charcot-Marie-Tooth Disease
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Genetic Testing
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Genotype
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Mutation
Type of study:
Prognostic_studies
Limits:
Child
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Child, preschool
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Female
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Humans
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Male
Language:
Zh
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2019
Type:
Article