Reach Us +44-1625-708989
Whole Exome Sequencing Identified A Pathogenic Mutation In RYR2 In A Chinese Family With Unexplained Sudden Death | 76675
ISSN: 2155-9880

Journal of Clinical & Experimental Cardiology
Open Access

Like us on:

Our Group organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations
700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

Whole exome sequencing identified a pathogenic mutation in RYR2 in a Chinese family with unexplained sudden death

20th European Cardiology Conference

Yubi Lin

Guangdong General Hospital, China Medical School of South China University of Technology, China

ScientificTracks Abstracts: J Clin Exp Cardiolog

DOI: 10.4172/2155-9880-C1-077

Objective: This study aimed to identify the pathogenic mutation in a Chinese family with unexplained sudden death (USD) or occasional syncope. Materials & Methods: Whole exome sequencing and gene chip sequencing were respectively conducted for two related patients. The genetic data was screened using the 1000 genomes project and SNP database (PubMed), and the identified mutations were assessed for predicted pathogenicity using the SIFT and Polyphen-2 algorithms. Results: We identified a heterozygous mutation in the RYR2 gene at c.490C>T (p. P164S), highly conserved across all species, in three members of this family, while another heterozygous de novo mutation in SCN5A at c.5576G>A p. R1859H was detected in one family member. Both variants were verified by Sanger sequencing. Importantly, RYR2 p. P164S is associated with the risk of sudden cardiac death, such as in Catecholaminergic polymorphic ventricular tachycardia. Conclusions: A pathogenic mutation in RYR2 (p. P164S) is the expected cause of USD in a Chinese family associated with malignant ventricular arrhythmias. Whole exome and chip gene sequencing can be useful for discovering the genetic causes of USD.

Yubi Lin has completed his PhD degree from Jinan University and Postdoctoral studies from Guangdong Cardiovascular Institute, Medical School of South China University of Technology. He is the Chief Expert of Guangdong Province Family Doctor Association Telemedicine and the expert committee member of CMIA Remote Heart Monitoring Professional Committee of China. He has published more than 27 papers in reputed journals.