Ryan S G, Buckwalter M S, Lynch J W, Handford C A, Segura L, Shiang R, Wasmuth J J, Camper S A, Schofield P, O'Connell P
Department of Pediatrics, University of Texas Health Science Center, San Antonio 78284.
Nat Genet. 1994 Jun;7(2):131-5. doi: 10.1038/ng0694-131.
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.
遗传性易惊症是一种常染色体显性神经疾病，其特征为夸张的惊吓反射和新生儿张力亢进，可由抑制性甘氨酸受体（GLRA1）α1亚基编码基因的突变引起。痉挛性（spd）是一种隐性神经小鼠突变体，在表型上类似于易惊症，且这两种疾病位点定位于同源染色体区域。本文我们描述了spd中的一种Glra1错义突变，该突变导致体外表达的甘氨酸受体的激动剂敏感性降低。我们得出结论，spd是易惊症的小鼠同源物，且GLRA1/Glra1中的突变可产生具有不同遗传模式的综合征。
