[Analysis of SCN4A gene variation in a Chinese pedigree affected with skeletal muscle sodium channelopathies].

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.