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A Novel Mutation of GARS in a Chinese Family With Distal Hereditary Motor Neuropathy Type V
First author：Yu Xueying
Corresponding author：Zhang Zaiqiang,Yan Yaping
essential_information
- Person in charge：Yu Xueying
- Data Sources： OTHERS
- Number of papers：OTHERS20190686
- Published time：2018-07-23
2018-07-23
Published articles
Journal：Front Neurol
Publication type: Case Report
IF(IF): 4.003
PMID: 30083128 Link To Pubmed Full text Download
Background And Purpose
Method
The proband was an 11-year-old girl presented with progressive distal limb muscle weakness and atrophy due to peripheral motor neuropathy for 1 year. Another five members from three successive generations of the family showed similar symptoms during their first to second decades and demonstrated an autosomal dominant inheritance.
Conclusion
The study found a novel GARS mutation of c.383T > G causing dHMN-V with subcellular localization abnormity in a genetic cosegregation family. These findings broaden the mutational spectrum of GARS.
Main results
The results of genetic testing revealed a novel c.383T>G mutation in the GARS gene in the affected individuals, showing apparent genetic cosegregation. Further bioinformatic analyses showed that the c.383T > G mutation resulted in L128R alteration in the second functional protein domain, and the mutation site was well conserved among different species. In silico analysis predicted that this mutation probably affected protein function. In vitro, this GARS mutation led to a different protein localization pattern than that of the wild-type enzyme.