Mutation analysis of SCN4A gene in a family with hypokalemic periodic paralysis / 中国医师杂志

ABSTRACT

Objective:To analyze the clinical features and SCN4A gentic background of a family with hypokalemic periodic paralysis.Methods:Peripheral blood samples and clinical data were collected from the proband, his brother and parents, and genomic DNA was extracted from these blood samples. Genome-wide exome sequencing was conducted to determine the mutation site in the proband and then allele-specific oligonucleotide primers were designed based on the mutation site. Polymerase chain reaction (PCR) was performed to detect the mutation site to further identify the causative gene in the family.Results:The patient was a 19-years-old male, Han nationality. The patient presented with periodic paralysis while hypokalemia at the same time. His father and grandpa have a similar medical history in the family. A hybrid missense variation (p.R672H) was identified in exon 12 of SCN4A gene in the proband. The same mutation was also detect in the proband's father.Conclusions:The heterozygous missense variation of SCN4A gene (p.R672H) found in this study resulted in familial hypokalemic periodic paralysis. Our research provided reference for the future genetic counseling of this patient and enriched the research data on the relationship between genotype and clinical manifestations.