• Medicine · Apr 2020

    Case Reports

    C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia: A case report.

    • Yan Zhang, Ling-Ling Wu, Xiao-Lan Zheng, and Cai-Mei Lin.
    • Xiamen Children's Hospital, Xiamen, China.
    • Medicine (Baltimore). 2020 Apr 1; 99 (17): e19968.

    IntroductionHyperekplexia 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.Patient ConcernsA Chinese infant with hyperekplexia and a novel mutation at c.292G > A.DiagnosisAll 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.InterventionsShe was treated with clonazepam.OutcomesHer muscle hypertonia recovered rapidly and the excessive startle reflex to unexpected stimuli was significantly reduced.ConclusionGenetic DNA sequencing is a crucial method for diagnosing hyperekplexia-related gene mutation.

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