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Mutations in aminoacyl-tRNA synthetase genes: an analysis of 10 cases / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics ; (12): 595-601, 2020.
Article in Chinese | WPRIM | ID: wpr-828700
ABSTRACT
OBJECTIVE@#To study the clinical features of the diseases associated with aminoacyl-tRNA synthetases (ARS) deficiency.@*METHODS@#A retrospective analysis was performed of the clinical and gene mutation data of 10 children who were diagnosed with ARS gene mutations, based on next-generation sequencing from January 2016 to October 2019.@*RESULTS@#The age of onset ranged from 0 to 9 years among the 10 children. Convulsion was the most common initial symptom (7 children). Clinical manifestations included ataxia and normal or mildly retarded intellectual development (with or without epilepsy; n=4) and onset of epilepsy in childhood with developmental regression later (n=2). Some children experienced disease onset in the neonatal period and had severe epileptic encephalopathy, with myoclonus, generalized tonic-clonic seizure, and convulsive seizure (n=4); 3 had severe delayed development, 2 had feeding difficulty, and 1 had hearing impairment. Mutations were found in five genes 3 had novel mutations in the AARS2 gene (c.331G>C, c.2682+5G>A, c.2164C>T, and c.761G>A), 2 had known mutations in the DARS2 gene (c.228-16C>A and c.536G>A), 1 had novel mutations in the CARS2 gene (c.1036C>T and c.323T>G), 1 had novel mutations in the RARS2 gene (c.1210A>G and c.622C>T), and 3 had novel mutations in the AARS gene (c.1901T>A, c.229C>T, c.244C>T, c.961G>C, c.2248C>T, and Chr1670298860-70316687del).@*CONCLUSIONS@#A high heterogeneity is observed in the clinical phenotypes of the diseases associated with the ARS deficiency. A total of 14 novel mutations in 5 genes are reported in this study, which enriches the clinical phenotypes and genotypes of the diseases associated with ARS deficiency.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Phenotype / Retrospective Studies / Epilepsy / Genetics / Amino Acyl-tRNA Synthetases / Mutation Type of study: Observational study Limits: Child / Humans Language: Chinese Journal: Chinese Journal of Contemporary Pediatrics Year: 2020 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Phenotype / Retrospective Studies / Epilepsy / Genetics / Amino Acyl-tRNA Synthetases / Mutation Type of study: Observational study Limits: Child / Humans Language: Chinese Journal: Chinese Journal of Contemporary Pediatrics Year: 2020 Type: Article