An Arg1239His mutation of the CACNL1A3 gene in a Korean family with hypokalemic periodic paralysis

다국어 초록 (Multilingual Abstract)

Familial hypokalemic periodic paralysis (hypoPP) is a rare inherited channelopathy that often presents with episodic weakness accompanied by hypokalemia. Thus far, mutations in the gene encoding two ion channels (CACNL1A3, L-type calcium channel alpha-1 subunit and SCN4A, a sodium channel type IV alpha subunit) have been identified. Several cases of familial hypoPP in children have been reported in Koreans, but there are only a few cases with identified mutations. We report a 12-year-old boy and his affected mother with hypoPP who has a heterozygous G to A substitution at codon 1239 in exon 30 of the CACNL1A3 gene that causes a change from arginine to histidine (Arg1239His, CACNL1A3). This mutation is common among Caucasians; however, it has not yet been reported in Koreans. The patients were treated with oral acetazolamide and potassium replacement and were instructed to avoid precipitating factors. After the medication and lifestyle modification, the paralytic attacks significantly decreased.

참고문헌 (Reference)

1 Venance SL, "The primary periodic paralyses: diagnosis, pathogenesis and treatment" 129 : 8-17, 2006

2 Ke Q, "R1239H mutation of CACNA1S gene in a Chinese family with hypokalaemic periodic paralysis" 23 : 272-274, 2006

3 Sarnat HB, "Nelson Textbook of Pediatrics. 17th ed" WB Saunders Co 2070-2071, 2004

4 Kim MK, "Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation" 14 : 727-731, 2004

5 Kusumi M, "Muscle weakness in a Japanese family of Arg1239His mutation hypokalemic periodic paralysis" 55 : 539-541, 2001

6 Tricarico D, "Impairment of skeletal muscle adenosine triphosphate- sensitive K+ channels in patients with hypokalemic periodic paralysis" 103 : 675-682, 1999

7 Kim SH, "Identification of mutations including de novo mutations in Korean patients with hypokalaemic periodic paralysis" 16 : 939-944, 2001

8 Sillen A, "Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families" 69 : 102-106, 1997

9 Elbaz A, "Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families" 56 : 374-380, 1995

10 Sternberg D, "Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A" 124 : 1091-1099, 2001

11 Fouad G, "Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis" 7 : 338-, 1997

12 Miller TM, "Correlating phenotype and genotype in the periodic paralyses" 63 : 1647-1655, 2004

13 Kim JB, "A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G)" 20 : 162-165, 2005