FGF12基因突变导致Brugada综合征的一个家系研究

One Brugada syndrome pedigree with FGF12 mutation

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Brugada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。

ObjectiveTo investigate the gene mutation of the Brugada syndrome pedigree, and exploring its significance.MethodsWe 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.ResultsFGF12 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.ConclusionThe FGF12 variants c.229-7C〉T may be a novel causing mutation of Brugada syndrome.