TY - JOUR
T1 - Novel mutation of GLRA1 in omani families with hyperekplexia and mild mental retardation
AU - Al-Futaisi, Amna Mohammed
AU - Al-Kindi, Mohammed Nasser
AU - Al-Mawali, Al Mundher
AU - Koul, Roshan Lal
AU - Al-Adawi, Samir
AU - Al-Yahyaee, Said Ali
N1 - Funding Information:
This work was supported by internal grant IG/MED/BIOC/07/02 from Sultan Qaboos University (Muscat, Oman) .
PY - 2012/2
Y1 - 2012/2
N2 - Hyperekplexia is characterized by neonatal hypertonia and exaggerated startle reflex in response to loud noise or tactile stimuli. Mutations in patients with hyperekplexia were evident in several genes encoding proteins involved in glycinergic neurotransmission, i.e., glycine receptor α and β subunits, collybistin, gephyrin, and glycine transporter 2. We clinically and genetically characterized two large, unrelated consanguineous families with hyperekplexia. Affected members of the two families manifested hyperekplexia with mild mental retardation. Patients exhibited a novel homozygote c.593G>C missense mutation in GLRA1, resulting in amino acid substitution p.W170S in the corresponding mature glycine receptor α1 subunit. This mutation was absent in 400 randomly selected chromosomes in the same population. In conclusion, a novel p.W170S mutation in the extracellular ligand binding domain of glycine receptor α1 subunit was detected in patients with hyperekplexia and mild mental retardation.
AB - Hyperekplexia is characterized by neonatal hypertonia and exaggerated startle reflex in response to loud noise or tactile stimuli. Mutations in patients with hyperekplexia were evident in several genes encoding proteins involved in glycinergic neurotransmission, i.e., glycine receptor α and β subunits, collybistin, gephyrin, and glycine transporter 2. We clinically and genetically characterized two large, unrelated consanguineous families with hyperekplexia. Affected members of the two families manifested hyperekplexia with mild mental retardation. Patients exhibited a novel homozygote c.593G>C missense mutation in GLRA1, resulting in amino acid substitution p.W170S in the corresponding mature glycine receptor α1 subunit. This mutation was absent in 400 randomly selected chromosomes in the same population. In conclusion, a novel p.W170S mutation in the extracellular ligand binding domain of glycine receptor α1 subunit was detected in patients with hyperekplexia and mild mental retardation.
UR - http://www.scopus.com/inward/record.url?scp=84856082256&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84856082256&partnerID=8YFLogxK
U2 - 10.1016/j.pediatrneurol.2011.11.008
DO - 10.1016/j.pediatrneurol.2011.11.008
M3 - Article
C2 - 22264702
AN - SCOPUS:84856082256
SN - 0887-8994
VL - 46
SP - 89
EP - 93
JO - Pediatric Neurology
JF - Pediatric Neurology
IS - 2
ER -