摘要目的 研究一个Brugada综合征家系的基因突变情况,并探讨其意义.方法 选择来自辽宁省大连市Bnugada综合征一家系,包括先证者在内的3代共14人,采用二代测序的方法进行全外显子及附近内含子部位测序,用Sanger测序法对其突变基因进行验证,并分析基因检测结果与临床的相关性.结果 该家系中检测到FGF12基因突变,新发现1个内含子的突变,c.229-7C＞T.该Brugada综合征家系中,3代共8人携带该位点基因突变,分别为先证者、Ⅳ-1、Ⅳ-4、Ⅳ-6、Ⅳ-9、Ⅴ-1、Ⅴ-2、Ⅴ-3,其中1例心电图表现与先证者一致.结论 FGF12基因c.229-7C＞T可能是该病患者的一个新突变位点.

abstractsObjective To investigate the gene mutation of the Brugada syndrome pedigree,and exploring its significance.Methods We studied a 3-generation family with Brugada syndrome including 14 members from Dalian of Liaoning Province.Gene analysis were detected by next generation sequencing.Then we verified the result by Sanger sequencing.Genotype-phenotype correlations were analyzed.Results FGF12 gene mutation was detected in this pedigree.One novel intron-variant c.229-7C＞T was identified in gene FGF12.There were 8 persons in three generations carried the gene mutation of this site:the proband,Ⅳ-1,Ⅳ-4,Ⅳ-6,Ⅳ-9,Ⅴ-1,Ⅴ-2,Ⅴ-3.Conclusion The FGF12 variants c.229-7C＞T may be a novel causing mutation of Brugada syndrome.