Correlating phenotype and genotype in the familial hypokalaemic periodic paralysis
- VernacularTitle:家族性低钾型周期性麻痹的基因突变与临床特征
- Author:
Qing KE
;
Weiping WU
;
Quangang XU
;
Dehui HUANG
;
Shengyuan YU
;
Xusheng HUANG
- Publication Type:Journal Article
- Keywords:
Hypokalemic periodic paralysis;
Calcium channels;
Sodium channels;
Mutation
- From:
Chinese Journal of Neurology
2000;0(05):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To inquire into the location of the relevant gene mutations in the Chinese familial hypokalaemic periodic paralysis, and to specify the correlation between the genotype and the clinical features of this disease. Methods Target-exon PCR and DNA direct sequencing were used to research the mutations in the CACNA1S, SCN4A, and KCNE3 genes of 14 familial hypokalaemic periodic paralysis probands. If a positive member was found, the other members of his (her) family must be inspected with the sequencing method. Results The probands of 3 families showed the known correlating mutations of hypokalaemic periodic paralysis, which were R1239H mutations in the CACNA1S in 1 family and R672H mutations in the SCN4A in the other 2 families. In addition, the differences of the age of onset, the responsibility to the treatment with acetazolamide and penetrance were found between the CACNA1S R1239H and SCN4A R672H mutations. Conclusions SCN4A R672H and CACNA1S R1239H mutations exist in the Chinese familial hypokalaemic periodic paralysis. Differences of the clinical features exist, resulting from these 2 kinds of mutations.
