Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation.
An R83H point mutation in KCNE3-encoded MiRP2 has been reported to cause 2% of all cases of familial periodic paralysis. The authors found MiRP2-R83H in 3 of 321 control subjects and in 5 unaffected related individuals. Provocation of an unaffected carrier with glucose or KCl did not induce weakness. The authors propose that causality criteria for mutations require exclusion of mutations in n = ln(P)/ln(1 - p(1)) ethnically matched control chromosomes (P = acceptable error probability; p(1) = mutation prevalence in patient chromosomes).
Jurkat-Rott
Karin
K
Department of Applied Physiology, Ulm University, Germany.
Lehmann-Horn
Frank
F
D000368:Aged; D019943:Amino Acid Substitution; D003080:Cold Temperature; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D005947:Glucose; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020967:Myotonic Disorders / Q000175:diagnosis / Q000235:genetics; D010245:Paralyses, Familial Periodic / Q000175:diagnosis / Q000235:genetics*; D020513:Paralysis, Hyperkalemic Periodic / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D011189:Potassium Chloride; D012016:Reference Values; D013971:Thyrotoxicosis / Q000235:genetics
C418492:KCNE3 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D011189:Potassium Chloride; D005947:Glucose