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

ABSTRACT: INTRODUCTION: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. PATIENT CONCERNS:A Chinese infant with hyperekplexia and a novel mutation at c.292G?>?A. DIAGNOSIS: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. INTERVENTIONS:She was treated with clonazepam. OUTCOMES:Her muscle hypertonia recovered rapidly and the excessive startle reflex to unexpected stimuli was significantly reduced. CONCLUSION:Genetic DNA sequencing is a crucial method for diagnosing hyperekplexia-related gene mutation.

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC7220787 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature