期刊
PEDIATRIC NEUROLOGY
卷 46, 期 2, 页码 89-93出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.pediatrneurol.2011.11.008
关键词
-
资金
- Sultan Qaboos University (Muscat, Oman) [IG/MED/BIOC/07/02]
Hyperekplexia is characterized by neonatal hypertonia and exaggerated startle reflex in response to loud noise or tactile stimuli. Mutations in patients with hyperekplexia were evident in several genes encoding proteins involved in glycinergic neurotransmission, i.e., glycine receptor alpha and beta subunits, collybistin, gephyrin, and glycine transporter 2. We clinically and genetically characterized two large, unrelated consanguineous families with hyperekplexia. Affected members of the two families manifested hyperekplexia with mild mental retardation. Patients exhibited a novel homozygote c.593G>C missense mutation in GLRA1, resulting in amino acid substitution p.W170S in the corresponding mature glycine receptor alpha 1 subunit. This mutation was absent in 400 randomly selected chromosomes in the same population. In conclusion, a novel p.W170S mutation in the extracellular ligand binding domain of glycine receptor alpha 1 subunit was detected in patients with hyperekplexia and mild mental retardation. Published by Elsevier Inc.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据