Exome sequencing identifies a novel mutation in the MYH6 gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest☆
نویسندگان
چکیده
Lien Lam, BSc, PhD, Jodie Ingles, BBiomed Sci, PhD, MPH, Christian Turner, MBBS, Michael Kilborn, MBBS, PhD, Richard D. Bagnall, BSc, PhD, Christopher Semsarian, MBBS, PhD, MPH, FHRS From the Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia, The Heart Centre for Children, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia, and Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
منابع مشابه
A Gain-of-Function Mutation of the SCN5A Gene Causes Exercise-induced Polymorphic Ventricular Arrhythmias Swan et al. SCN5A Mutation Causing Exercise-Induced Polymorphic Tachycardia
Background. Over the past 15 years, a myriad of mutations in genes encoding cardiac ion channels and ion channel interacting proteins have been linked to a long list of inherited atrial and ventricular arrhythmias. The purpose of this study was to identify the genetic and functional determinants underlying exercise-induced polymorphic ventricular arrhythmia present in a large multi-generational...
متن کاملExome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.
Wolff-Parkinson-White (WPW) syndrome is a common cause of supraventricular tachycardia that carries a risk of sudden cardiac death. To date, mutations in only one gene, PRKAG2, which encodes the 5'-AMP-activated protein kinase subunit γ-2, have been identified as causative for WPW. DNA samples from five members of a family with WPW were analyzed by exome sequencing. We applied recently designed...
متن کاملGain-of-function mutation of the SCN5A gene causes exercise-induced polymorphic ventricular arrhythmias.
BACKGROUND Over the past 15 years, a myriad of mutations in genes encoding cardiac ion channels and ion channel interacting proteins have been linked to a long list of inherited atrial and ventricular arrhythmias. The purpose of this study was to identify the genetic and functional determinants underlying exercise-induced polymorphic ventricular arrhythmia present in a large multigenerational f...
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Background: Progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhood-onset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. In this study, we introduce a patient with developmental regression and autism. The causative mutation was found by exome sequencing. Methods: The proband showed a gener...
متن کاملWhole exome sequencing revealed a novel dystrophin-related protein-2 (DRP2) deletion in an Iranian family with symptoms of polyneuropathy
Objective(s): Charcot-Marie Tooth disease (CMT) is one of the main inherited causes of motor and sensory neuropathies with variable expressivity and age-of onset. Although more than 70 genes have been identified for CMT, more studies are needed to discover other genes involved in CMT. Introduction of whole exome sequencing (WES) to capture all the exons may help to fin...
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عنوان ژورنال:
دوره 1 شماره
صفحات -
تاریخ انتشار 2015