Yu Rong, Fan Xue-Feng, Chen Chan, Liu Zheng-Hua
Department of Anesthesiology, The Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, P.R. China.
Department of Orthopaedics, Xiangya Hospital, Central South University, Changsha, Hunan 410010, P.R. China.
Mol Med Rep. 2017 Jul;16(1):410-414. doi: 10.3892/mmr.2017.6592. Epub 2017 May 17.
Cardiac conduction disease is a primary cause of sudden cardiac death. Sodium voltage‑gated channel‑α subunit 5 (SCN5A) mutations have been reported to underlie a variety of inherited arrhythmias. Numerous disease‑causing mutations of SCN5A have been identified in patients with ≥10 different conditions, including type 3 long‑QT syndrome and Brugada syndrome. The present study investigated a family with a history of arrhythmia, with the proband having a history of arrhythmia and syncope. Whole‑exome sequencing was applied in order to detect the disease‑causing mutation in this family, and Sanger sequencing was used to confirm the co‑segregation among the family members. A missense mutation (c.1099C>G/p.R367G) of SCN5A was identified in the family and was observed to be co‑segregated in all affected members of the family. The missense mutation results in a substitution of glycine for arginine, which may affect sodium transmembrane transport. The present study provides an accurate genetic test which may be used in individuals who exhibit no clinical symptoms.
心脏传导疾病是心源性猝死的主要原因。据报道，钠电压门控通道α亚基5（SCN5A）突变是多种遗传性心律失常的基础。在患有≥10种不同病症的患者中已鉴定出许多导致SCN5A疾病的突变，包括3型长QT综合征和Brugada综合征。本研究调查了一个有心律失常病史的家系，先证者有心律失常和晕厥病史。应用全外显子组测序以检测该家系中的致病突变，并使用Sanger测序来确认家庭成员之间的共分离情况。在该家系中鉴定出SCN5A的一个错义突变（c.1099C>G/p.R367G），并观察到其在该家系所有受影响成员中发生共分离。该错义突变导致精氨酸被甘氨酸取代，这可能会影响钠的跨膜转运。本研究提供了一种准确的基因检测方法，可用于无症状个体。
