Novel GLRB gene mutation in a Saudi baby with hyperekplexia.
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Date
2014-01
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Abstract
Aim: We aim to describe a case of hyperekplexia in a Saudi neonate due to Novel
mutation in GLRB.
Case Presentation: One month old Saudi neonate with hypertonicity, repetitive
episodes of jitteriness and exaggerated startle reflex.
Discussion: Hyperekplexia (OMIM:149400, 138492 & 604159) is considered a rare,
autosomal dominant neurological disorder that presents early in life with hypertonicity,
exaggerated startle response and life threatening neonatal apnea. It has been caused by
mutation in the alpha-1subunit (GLRA1) on chromosome 5q32, Beta subunit (GLRB)
gene on chromosome 4q31 of the inhibitory glycine receptor and GLYT2 gene (SLC6A5)
on chromosome 11p15 which encodes a presynaptic glycine transporter.
Conclusion: Raising awareness of the presence of this treatable disease may prevent
unnecessary exposure to anti-epileptic medications, prevent life threatening apneas and
improve long term outcome.
Description
Keywords
Startle, hyperekplexia, glycine, receptor, stiff baby syndrome
Citation
Rizk Tamer Mohamed, Mahmoud Adel Ahmed Hassan. Novel GLRB gene mutation in a Saudi baby with hyperekplexia. International Neuropsychiatric Disease Journal. 2014 Jan-Feb 2(1): 21-27.