Analysis of one familial hypokalemic periodic paralysis family with R669H variant of SCN4A gene

VernacularTitle:SCN4A基因R669H变异的家族性低钾性周期性麻痹1家系分析
Author: Jie LI ¹ ; Le WANG ; Xueshuang HUANG
Author Information

1. 418000 怀化,湖南医药学院基础医学院
Keywords: hypokalemic periodic paralysis; whole exome sequencing; SCN4A gene; mutation; incomplete penetrance
From: Journal of Clinical Neurology 2024;37(1):43-45
CountryChina
Language:Chinese
Abstract: Objective To investigate the clinical and genetic characteristics of a family with hypokalemic periodic paralysis(HOKPP).Methods The clinical data of one HOKPP family were retrospectively analyzed.Results The proband presented with periodic paralysis,limb weakness and decreased serum potassium(1-2 mmol/L).The proband's father and cousin had similar symptoms.A heterozygous missense variant c.2006G＞A(p.R669H)in SCN4A gene was identified in the proband,his father,younger aunt and cousin using gene detection.However,the variant was absent in his elder aunt and younger uncle.Conclusions The family shows irregular dominant inheritance.The severity,frequency and age of onset of male heterozygotes were different,while female heterozygotes had no clinical phenotype.The study first confirms that the R669H variant in SCN4A gene causes complete penetrance in males and carriers in females in Asian populations.