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
The mutant GLRB does not affect the expression and distribution of GLRB. The expression of wild type and mutant GLRB were examined by (a) Real-time PCR (b) Western blotting (c) Immunofluorescence analysis. Scale bar = 50μm.
Modeling of the novel GLRB mutant. A. Sequence alignment of the conserved GLRB sequence among different species. The mutation site is labeled in red. B. The p.M99K mutation and surrounding region are shown on the hypothetical 3-D structure of the GLRB (Swiss-model).
Summary of GLRB mutations. Diagram of all GLRB mutations (NM_000824). Mutations in black: recessive or compound heterozygous mutations. The mutation detected in this paper is marked in red. ECD, extracellular domain, TM, transmembrane domain.
