新的家族性杂合 c 4066_4068delTT 2bp 缺失的 SCN5A 基因导致 Brugada 综合征。
New familial heterozygous c 4066_4068 delTT 2 bp deletion of the SCN5A gene causing Brugada syndrome.
机构信息
University Leipzig, Heart Center, Department of Internal Medicine/Cardiology, Leipzig, Germany.
出版信息
Heart Rhythm. 2011 Aug;8(8):1224-7. doi: 10.1016/j.hrthm.2011.03.010. Epub 2011 Mar 10.
BACKGROUND
Cardiac sodium channel alterations have been identified as the underlying condition in patients with Brugada syndrome.
OBJECTIVE
This study identified a novel mutation of the SCN5A gene in a family with Brugada syndrome.
METHODS
Blood was drawn from the children and mother for genetic analysis. All exons of the SCN5A gene were amplified by polymerase chain reaction, and a sequence analysis was performed.
RESULTS
The mutation was detected in 1 symptomatic and 2 asymptomatic family members. The deletion of base 4066_4068delTT leads to a shift in the amino acid sequence and a premature stop of the protein translation. The clinical diagnosis of Brugada syndrome in this family was supported by the detection of the new mutation.
CONCLUSION
We describe a family partly with Brugada syndrome and a novel mutation in the exon 23 of the SCN5A gene leading to a deletion of 2 thymidine bases. This mutation results in an early termination of the encoded protein and possibly in a nonfunctional channel protein.
背景
心脏钠离子通道改变已被确定为 Brugada 综合征患者的潜在病症。
目的
本研究在 Brugada 综合征患者的一个家族中发现了 SCN5A 基因突变。
方法
采集患儿及其母亲的血液进行基因分析。通过聚合酶链反应扩增 SCN5A 基因的所有外显子，并进行序列分析。
结果
在 1 名有症状和 2 名无症状家族成员中检测到突变。碱基 4066_4068delTT 的缺失导致氨基酸序列移位和蛋白质翻译过早终止。该家族 Brugada 综合征的临床诊断得到新突变检测的支持。
结论
我们描述了一个部分患有 Brugada 综合征的家族，以及 SCN5A 基因外显子 23 的一个新突变，导致 2 个胸腺嘧啶碱基缺失。该突变导致编码蛋白的提前终止，可能导致无功能的通道蛋白。
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