Zhang Yan, Wu Ling-Ling, Zheng Xiao-Lan, Lin Cai-Mei
Xiamen Children's Hospital, Xiamen, China.
Medicine (Baltimore). 2020 Apr;99(17):e19968. doi: 10.1097/MD.0000000000019968.
Hyperekplexia is a rare hereditary neurological disorder; only 5 glycine receptor alpha 1 subunit gene (GLRA1) mutations have been reported in 5 Chinese patients. We report a Chinese infant with hyperekplexia and a novel mutation at c.292G > A.
A Chinese infant with hyperekplexia and a novel mutation at c.292G > A.
All exons of GLRA1 were sequenced in her parents and her, which revealed a mutation at c.1030C > T and another novel mutation at c.292G > A. Her diagnosis was confirmed as hereditary hyperekplexia with GlRA1 hybrid gene mutations based on the sequencing results.
She was treated with clonazepam.
Her muscle hypertonia recovered rapidly and the excessive startle reflex to unexpected stimuli was significantly reduced.
Genetic DNA sequencing is a crucial method for diagnosing hyperekplexia-related gene mutation.
僵人综合征是一种罕见的遗传性神经障碍；仅报道过5例中国患者存在5种甘氨酸受体α1亚基基因（GLRA1）突变。我们报告1例患有僵人综合征且存在c.292G＞A新突变的中国婴儿。
1例患有僵人综合征且存在c.292G＞A新突变的中国婴儿。
对其父母及她本人进行GLRA1所有外显子测序，结果显示存在c.1030C＞T突变以及另一个c.292G＞A新突变。根据测序结果，她的诊断被确认为伴有GlRA1杂合基因突变的遗传性僵人综合征。
给予她氯硝西泮治疗。
她的肌张力亢进迅速恢复，对意外刺激的过度惊跳反射明显减轻。
基因DNA测序是诊断僵人综合征相关基因突变的关键方法。
