A Novel Missense Mutation in the GLRB Gene Causes Hyperekplexia
A Novel Missense Mutation in the GLRB Gene Causes Hyperekplexia
Jia-lue Hua1,*, Peng-fei Wang2,*, Ye-ping Song3, Meng-lei Ding4, Li-ling Wang3
ABSTRACT
The purpose of this study is to describe the clinical and genetic characteristics of a Chinese patient with hyperekplexia. We described the clinical feature of a 31-year-old male patient with hyperekplexia. Gene mutation was screened by whole exome sequencing. Furthermore, the plasmid containing wild type or mutant was transiently transfected into HEK293T cells. Realtime PCR and Western blotting were performed to evaluate the expression of GLRB. The distribution of GLRB was observed by immunofluorescence. One novel p.M99K mutation in the extracellular ligand binding domain of glycine receptor beta subunit was identified in our patient. Through the comparison of different species, it was found that the mutation site and its nearby sequences were highly conserved. Pathogenicity prediction (Polyphen 2 and Mutation Taster) indicated this mutation may be pathogenic. The expression and distribution of GLRB were not significant between the mutant and wild types. Our results suggest that the novel GLRB mutation may cause hyperekplexia. In addition, we also tried to explore the possible pathogenic mechanism of this mutation. It is essential to conduct more genetic and functional research to improve the understanding of this disease.
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