Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease.

ABSTRACT: Startle disease is a rare, potentially fatal neuromotor disorder characterized by exaggerated startle reflexes and hypertonia in response to sudden unexpected auditory, visual or tactile stimuli. Mutations in the GlyR α(1) subunit gene (GLRA1) are the major cause of this disorder, since remarkably few individuals with mutations in the GlyR β subunit gene (GLRB) have been found to date. Systematic DNA sequencing of GLRB in individuals with hyperekplexia revealed new missense mutations in GLRB, resulting in M177R, L285R and W310C substitutions. The recessive mutation M177R results in the insertion of a positively-charged residue into a hydrophobic pocket in the extracellular domain, resulting in an increased EC(50) and decreased maximal responses of α(1)β GlyRs. The de novo mutation L285R re

SUBMITTER: James VM 

PROVIDER: S-EPMC3581774 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature