Analysis of SCN4A gene variation in a Chinese pedigree affected with skeletal muscle sodium channelopathies.
10.3760/cma.j.issn.1003-9406.2019.08.014
- Author:
Yan LU
1
;
Xiaohui YANG
;
Xiuxia WANG
;
Ping XUE
;
Jinhong ZHANG
;
Yuejing LI
Author Information
1. Department of Pediatrics the Second Hospital of Hebei Medical University, Shijiazhuang, Hebei 050000, China. wangxiuxia868@163.com.
- Publication Type:Journal Article
- MeSH:
Channelopathies;
genetics;
Humans;
Muscle, Skeletal;
physiopathology;
Mutation;
NAV1.4 Voltage-Gated Sodium Channel;
genetics;
Pedigree
- From:
Chinese Journal of Medical Genetics
2019;36(8):809-812
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical features of a Chinese pedigree affected with skeletal muscle sodium channelopathies due to variation of SCN4A gene.
METHODS:Potential variation of the 24 exons of the SCN4A gene was screened using PCR and Sanger sequencing.
RESULTS:Four family members were affected with the disease in an autosomal dominant inheritance pattern. Three patients had normekalemic periodic paralysis, while 1 showed paramyotonia congenita. Genetic analysis detected a missense variation c.2078T>C (p.Ile693Thr) in exon 13 of the SCN4A gene in the proband and other 3 affected relatives.
CONCLUSION:Normokalemic periodic paralysis and paramyotonia congenita can occur in different family members with skeletal muscle sodium channelopathies due to c.2078T>C(p.Ile693Thr) variation of SCN4A gene.
