Mutations of SCN4A gene cause different diseases: 2 case reports and literature review
Mutations of SCN4A gene cause different diseases: 2 case reports and literature review
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SCN4A基因突变导致不同疾病：2例报告及文献复习
DOI：
10.1080/19336950.2015.1012945
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发表时间：
2015-03-01
期刊：
影响因子：
3.3
通讯作者：
Cao, Li
中科院分区：
文献类型：
--
作者：
Liu, Xiao-li;Huang, Xiao-jun;Cao, Li
SCN 4A编码Nav1.4通道，SCN 4A中的突变导致不同的离子通道病。本研究收集了1例散发性周期性麻痹患者、1个副肌强直家系和200例正常对照。从外周血白细胞中提取基因组DNA，然后进行聚合酶链反应和候选基因的DNA测序，包括SCN 4A和CACNA 1 S。结果表明，在低钾型周期性麻痹患者和先天性副肌强直家系中，SCN 4A基因分别存在c.2024G>A（R675 Q）和c.1333G>A（V445 M）杂合突变。在健康对照中未检测到这两种突变。与文献报道的病例相比，R675 Q突变型周期性麻痹患者通常不表现为低钾型周期性麻痹，而表现为高钾型或正常钾型周期性麻痹。V445 M突变在中国非营养不良性肌强直患者中首次报道。此外，我们还进行了文献回顾，总结了2种突变的临床特征，并建立了基因型-表型相关性，为诊断提供指导。
SCN4A encodes the Nav1.4 channel and mutations in SCN4A lead to different ionic channelopathies. In this study, one sporadic individual of periodic paralysis, one paramyotonia family and 200 normal healthy controls are enrolled. Genomic DNA was extracted from peripheral blood leukocytes, followed by polymerase chain reaction and DNA sequencing of candidate genes, including SCN4A and CACNA1S. As a result, heterozygous mutations c.2024G>A (R675Q) and c.1333G>A (V445M) of gene SCN4A were identified in the hypokalemic periodic paralysis patient and the paramyotonia congenita family respectively. Both mutations were not detected in healthy controls. Compared with reported cases, patients with mutation R675Q usually do not present hypokalemic periodic paralysis but hyperkalemic or normokalemic periodic paralysis. The mutation V445M was first reported in Chinese patients with nondystrophic myotonias. In addition, we carried out literature review by summarizing clinical features of the 2 mutations and establish the genotype-phenotype correlations to provide guidance for diagnosis.