Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene.
Hyperekplexia is commonly familial and with dominant transmission. The gene involved, GLRA1, encodes the alpha1 subunit of the glycine receptor. We describe 3 affected children homozygous for a new mutation, R100H. Both parents were heterozygous carriers; while the father was healthy, the mother has periodic limb movements during sleep. This suggests that Hys-100 could exhibit incomplete penetrance, but was linked to a severe classical form of hyperekplexia in homozygous.
Coto
Eliecer
E
Genética Molecular, Hospital Central Asturias, Oviedo, Spain. eliecer.coto@sespa.princast.es
Armenta
Daniel
D
Espinosa
Raúl
R
Argente
Joaquín
J
Castro
Mónica G
MG
Alvarez
Victoria
V
D000293:Adolescent; D001120:Arginine / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D006639:Histidine / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D018009:Receptors, Glycine / Q000235:genetics*; D012021:Reflex, Abnormal / Q000235:genetics*
C000657604:GLRA1 protein, human; D018009:Receptors, Glycine; D006639:Histidine; D001120:Arginine