Clinical evaluation of R860Q semi-conservative amino acid substitution in CACNA1C gene in association with long QT syndrome
نویسندگان
چکیده
Article history: Received 26 November 2016 Accepted 31 March 2017 Available online 10 April 2017 she underwent insertion of an implantable cardioverter defibrillator for secondary prevention purpose. A genetic testing panel including sequencing and deletion/duplication analysis of 12 genes associated with LQTS was performed which revealed two variants of unknown significance – one in the CACNA1C gene and the other in the KCNE1 gene. We obtained a targeted 4-generation pedigree (Fig. 1), which revealed
منابع مشابه
های اسید گلوتامیک، تریپتوفان، آلانین tRNA بررسی مولکولی در Long QT وآسپارژین درژنوم میتوکندری بیماران مبتلا بهسندرم مقایسه با گروه کنترل
Background and purpose: Long QT syndrome is a heart arrhythmia identified by prolongation of the QT interval which is a cause of sudden cardiac death in young individuals. In most cases, abnormalities in heart repolarization are reasons of prolongation of action potential and arrhythmia. The activity of ion channels is sensitive to ATP level, therefore, mitochondrial disorders are considered...
متن کاملLack of association between coding region of KCNE2 gene and the congenital long QT syndrome in an Iranian population
Introduction: Congenital long QT syndrome (LQTS) is a cardiac disorder characterized by QT interval prolongation at basal ECG. Different LQTS genes encode ion channel subunits or proteins involved in regulating cardiac ionic currents. Long QT syndrome type 6 (LQT6) is caused by mutation in the KCNE2 gene. Our research aimed to analyze genetic variants of KCNE2 gene causing the disease in Irania...
متن کاملThe mitochondrial DNA mutations associated with cardiac arrhythmia investigated in an LQTS family
Objective(s): As mitochondrial oxidative stress is probably entailed in ATP production, a candidate modifier factor for the long QT syndrome (LQTS) could be mitochondrial DNA (mtDNA). It has been notified that ion channels' activities in cardiomyocytes are sensitive to the ATP level. Materials and Methods: The sample of the research was an Iranian family with LQTS for mutations by PCR-SSCP and...
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متن کاملLong QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes.
AIMS CACNA1C mutations have been reported to cause LQTS type 8 (LQT8; Timothy syndrome), which exhibits severe phenotypes, although the frequency of patients with LQT8 exhibiting only QT prolongation is unknown. This study aimed to elucidate the frequency of CACNA1C mutations in patients with long QT syndrome (LQTS), except those with Timothy syndrome and investigate phenotypic variants. METH...
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عنوان ژورنال:
دوره 15 شماره
صفحات -
تاریخ انتشار 2017