Guo Manli, Zhang Guowen, Ma Shaogang, Xu Tie, Peng Yigen
Xuzhou Medical University, Xuzhou, Jiangsu 221002, China; Department of Emergency Medicine, Huaian Hospital Affiliated to Xuzhou Medical University, Huaian, Jiangsu 223002, China. Email:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Feb 10;35(1):74-77. doi: 10.3760/cma.j.issn.1003-9406.2018.01.016.
OBJECTIVE To screen for mutations in a Chinese pedigree affected with hypokalemic periodic paralysis. METHODS The proband and nine family members were enrolled for the analysis of CACNA1S and SCN4A gene mutations. Genomic DNA was extracted from peripheral blood samples. The coding regions of the two genes were amplified with PCR and subjected to Sanger sequencing. Potential impact of suspected mutations was predicted with Bioinformatics software. The mutations were also verified among 100 healthy controls. RESULTS The proband and 5 family members (including 5 males and 1 female) had presented with episodes of flaccid paralysis accompanied by low serum potassium. Genetic testing has identified a c.664C>T (p.Arg222Trp) mutation in the proband, which has been reported previously. The same mutation was identified in other 5 affected members from the family. No mutation of the CACNA1S gene was detected. CONCLUSION The c.664C>T mutation of the SCN4A gene probably underlies the hypokalemic periodic paralysis in this family. All patients from the family have shown a complete penetrance of the disease.
目的 筛查一个患低钾性周期性麻痹的中国家系中的突变。方法 纳入先证者及九名家族成员进行CACNA1S和SCN4A基因突变分析。从外周血样本中提取基因组DNA。用PCR扩增这两个基因的编码区并进行Sanger测序。用生物信息学软件预测疑似突变的潜在影响。在100名健康对照中也验证了这些突变。结果 先证者及5名家族成员（包括5名男性和1名女性）出现弛缓性麻痹发作并伴有低血钾。基因检测在先证者中鉴定出一个c.664C>T（p.Arg222Trp）突变，该突变此前已有报道。在该家族其他5名患病成员中也鉴定出相同突变。未检测到CACNA1S基因的突变。结论 SCN4A基因的c.664C>T突变可能是该家族低钾性周期性麻痹的病因。该家族所有患者均表现出疾病的完全外显率。
