Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation.
Familial hypokalemic periodic paralysis is an autosomal-dominant disorder with features of both genetic and phenotypic heterogeneity. Mutation screening was performed on Korean hypokalemic periodic paralysis patients to locate the corresponding mutations and to specify the clinical features associated with the mutations. Target-exon PCR, direct sequencing, and restriction fragment length polymorphism analysis were used. A novel SCN4A Arg672Cys mutation and a known CACNL1A3 Arg528His mutation were identified. Incomplete penetrance in women with Arg672Cys mutation was evident. A comparison of the present study with previous studies raises the possibility that hypokalemic periodic paralysis is an allelic-specific or mulfactorial, rather than a gene-specific, disorder. Reported herein are two Korean hypokalemic periodic paralysis families, one carrying a novel SCN4A Arg672Cys mutation with incomplete penetrance in women, and the other carrying a CACNL1A3 Arg528His mutation, with the onset of characteristics of hypoPP developing at an earlier age, as well as a higher penetrance rate in women.
Kim
Myeong-Kyu
MK
Department of Neurology, Chonnam National University Medical School, Gwangju 501-190, South Korea. nkkim20@hotmail.com
Lee
Seung-Han
SH
Park
Man-Seok
MS
Kim
Byeong-Chae
BC
Cho
Ki-Hyun
KH
Lee
Min-Cheol
MC
Kim
Jin-Hee
JH
Kim
Seung-Min
SM
D000200:Action Potentials / Q000502:physiology; D017668:Age of Onset; D001120:Arginine / Q000235:genetics*; D015220:Calcium Channels / Q000235:genetics; D003545:Cysteine / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons; D005192:Family Health; D005260:Female; D006579:Heterozygote; D006801:Humans; D020514:Hypokalemic Periodic Paralysis / Q000235:genetics* / Q000503:physiopathology; D007723:Korea; D008297:Male; D018482:Muscle, Skeletal / Q000503:physiopathology; D009154:Mutation; D062553:NAV1.4 Voltage-Gated Sodium Channel; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D015222:Sodium Channels / Q000235:genetics*; D020864:Calcium Channels, N-Type
D001120:Arginine; D015220:Calcium Channels; D003545:Cysteine; D062553:NAV1.4 Voltage-Gated Sodium Channel; D015222:Sodium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type; C106251:SCN4A protein, human