title: A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse.
abstract: Hereditary hyperekplexia, an autosomal dominant neurologic disorder characterized by an exaggerated startle reflex and neonatal hypertonia, can be caused by mutations in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor (GLRA1). Spasmodic (spd), a recessive neurologic mouse mutant, resembles hyperekplexia phenotypically, and the two disease loci map to homologous chromosomal regions. Here we describe a Glra1 missense mutation in spd that results in reduced agonist sensitivity in glycine receptors expressed in vitro. We conclude that spd is a murine homologue of hyperekplexia and that mutations in GLRA1/Glra1 can produce syndromes with different inheritance patterns.
authors.affiliation: Department of Pediatrics, University of Texas Health Science Center, San Antonio 78284.
authors.forename: S G
authors.initials: SG
authors.lastname: Ryan
authors.forename: M S
authors.initials: MS
authors.lastname: Buckwalter
authors.forename: J W
authors.initials: JW
authors.lastname: Lynch
authors.forename: C A
authors.initials: CA
authors.lastname: Handford
authors.forename: L
authors.initials: L
authors.lastname: Segura
authors.forename: R
authors.initials: R
authors.lastname: Shiang
authors.forename: J J
authors.initials: JJ
authors.lastname: Wasmuth
authors.forename: S A
authors.initials: SA
authors.lastname: Camper
authors.forename: P
authors.initials: P
authors.lastname: Schofield
authors.forename: P
authors.initials: P
authors.lastname: O'Connell
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D018076:DNA, Complementary / Q000235:genetics; D006801:Humans; D051379:Mice; D008805:Mice, Inbred A; D008818:Mice, Neurologic Mutants; D008969:Molecular Sequence Data; D009154:Mutation; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D051381:Rats; D018009:Receptors, Glycine / Q000235:genetics*; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid
chemical_list: D018076:DNA, Complementary; D018009:Receptors, Glycine