The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis

Familial hypokalemic periodic paralysis (HOPP) is a rare autosomal-dominant disease characterized by reversible attacks of muscle weakness occurring with episodic hypokalemia. Mutations in the skeletal muscle calcium (CACNA1S) and sodium channel (SCN4A) genes have been reported to be responsible for...

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Bibliographic Details
Published in:Journal of Korean medical science 2007, 22(6), , pp.946-951
Main Authors: Kim, June Bum, Kim, Man Ho, Lee, Soon Ju, Kim, Dae Joong, Lee, Byung Churl
Format: Article
Language:English
Subjects:
Adolescent
Adult
Calcium Channels - genetics
Child
Child, Preschool
Genotype
Humans
Hypokalemic Periodic Paralysis - genetics
Infant
Mutation
NAV1.4 Voltage-Gated Sodium Channel
Original
Phenotype
Sodium Channels - genetics
의학일반
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Summary:Familial hypokalemic periodic paralysis (HOPP) is a rare autosomal-dominant disease characterized by reversible attacks of muscle weakness occurring with episodic hypokalemia. Mutations in the skeletal muscle calcium (CACNA1S) and sodium channel (SCN4A) genes have been reported to be responsible for familial HOPP. Fifty-one HOPP patients from 20 Korean families were studied to determine the relative frequency of the known mutations and to specify the clinical features associated with the identified mutations. DNA analysis identified known mutations in 12 families: 9 (75%) were linked to the CACNA1S gene and 3 (25%) to the SCN4A gene. The Arg528His mutation in the CACNA1S gene was found to be predominant in these 12 families. Additionally, we have detected one novel silent exonic mutation (1950C>T) in the SCN4A gene. As for a SCN4A Arg669His mutation, incomplete penetrance in a woman was observed. Characteristic clinical features were observed both in patients with and without mutations. This study presents comprehensive data on the genotype and phenotype of Korean families with HOPP.
ISSN:1011-8934
1598-6357
DOI:10.3346/jkms.2007.22.6.946