Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia.

摘要: Hereditary hyperekplexia, or familial startle disease (STHE), is an autosomal dominant neurologic disorder characterized by marked muscle rigidity of central nervous system origin and exaggerated response to unexpected acoustic tactile stimuli. Linkage analyses in several large families provided evidence for locus homogeneity showed the gene was linked DNA markers on long arm chromosome 5. Here we describe identification point mutations encoding α1 subunit glycine receptor (GLRA1) STHE patients from four different families. All occur same base pair exon 6 result substitution uncharged amino acid (leucine glutamine) Arg271 mature protein.