Open AccessC.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia
Author(s) -
Yan Zhang,
Lingling Wu,
Xiaolan Zheng,
Cai-Mei Lin
Publication year - 2020
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000019968
Subject(s) - medicine , mutation , clonazepam , exon , glycine receptor , genetics , gene , gene mutation , glycine , biology , psychiatry , amino acid
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.