Mutations in aminoacyl-tRNA synthetase genes: an analysis of 10 cases

To study the clinical features of the diseases associated with aminoacyl-tRNA synthetases (ARS) deficiency.OBJECTIVETo study the clinical features of the diseases associated with aminoacyl-tRNA synthetases (ARS) deficiency.A retrospective analysis was performed of the clinical and gene mutation data...

Full description

Saved in:
Bibliographic Details
Published in:Zhongguo dang dai er ke za zhi 2020-06, Vol.22 (6), p.595
Main Authors: Wu, Teng-Hui, Peng, Jing, Zhang, Ci-Liu, Wu, Li-Wen, Yang, Li-Fen, Peng, Pan, Pang, Nan, Yin, Fei, He, Fang
Format: Article
Language:Chinese
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:To study the clinical features of the diseases associated with aminoacyl-tRNA synthetases (ARS) deficiency.OBJECTIVETo study the clinical features of the diseases associated with aminoacyl-tRNA synthetases (ARS) deficiency.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.METHODSA 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.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 ne
ISSN:1008-8830