ArticleInternational journal of legal medicine2016
Identification of rare variants of DSP gene in sudden unexplained nocturnal death syndrome in the southern Chinese Han population.
Article in International journal of legal medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 27 citations in OpenAlex.
- Genetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM): A Whole-Exome Sequencing Study.International journal of molecular sciences · 2025Article
- Case Report: Comprehensive evaluation of ECG phenotypes and genotypes in a family with Brugada syndrome carryingFrontiers in cardiovascular medicine · 2024Article
- Desmosomal COP9 regulates proteome degradation in arrhythmogenic right ventricular dysplasia/cardiomyopathy.The Journal of clinical investigation · 2021Article
- Sudden Cardiac Death (SCD) - risk stratification and prediction with molecular biomarkers.Journal of biomedical science · 2019Review
- Genetic diagnosis of acute aortic dissection in South China Han population using next-generation sequencing.International journal of legal medicine · 2018Article
- Sudden Unexplained Nocturnal Death Syndrome: The Hundred Years' Enigma.Journal of the American Heart Association · 2018Review
- Critical Roles of Xirp Proteins in Cardiac Conduction and Their Rare Variants Identified in Sudden Unexplained Nocturnal Death Syndrome and Brugada Syndrome in Chinese Han Population.Journal of the American Heart Association · 2018Article
- A compendium and functional characterization of mammalian genes involved in adaptation to Arctic or Antarctic environments.BMC genetics · 2017Article
- The Promise of Molecular Autopsy in Forensic Pathology Practice.Academic forensic pathology · 2017Article
- Novel gene mutation identified in a patient with arrhythmogenic ventricular cardiomyopathy.HeartRhythm case reports · 2017Article
- Molecular pathological study on LRRC10 in sudden unexplained nocturnal death syndrome in the Chinese Han population.International journal of legal medicine · 2017Article
- An East Asian Common Variant Vinculin P.Asp841His Was Associated With Sudden Unexplained Nocturnal Death Syndrome in the Chinese Han Population.Journal of the American Heart Association · 2017Article
- Vinculin variant M94I identified in sudden unexplained nocturnal death syndrome decreases cardiac sodium current.Scientific reports · 2017Article
- Association of common and rare variants of SCN10A gene with sudden unexplained nocturnal death syndrome in Chinese Han population.International journal of legal medicine · 2017Article
- Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China.Mayo Clinic proceedings · 2016Article
- The biophysical characterization of the first SCN5A mutation R1512W identified in Chinese sudden unexplained nocturnal death syndrome.Medicine · 2016Observational
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
Abstract
Sudden unexplained nocturnal death syndrome (SUNDS) is a perplexing disorder to both forensic pathologists and clinic physicians. Desmoplakin (DSP) gene was the first desmosomal gene linked to arrhythmogenic right ventricular cardiomyopathy (ARVC) which was associated with sudden death. To identify the genetic variants of the DSP gene in SUNDS in the southern Chinese Han population, we genetically screened the DSP gene in 40 sporadic SUNDS victims, 16 Brugada syndrome (BrS) patients, and 2 early repolarization syndrome (ERS) patients using next generation sequencing (NSG) and direct Sanger sequencing. A total of 10 genetic variants of the DSP gene were detected in 11 cases, comprised of two novel missense mutations (p.I125F and p.D521A) and eight previously reported rare variants. Of eight reported variants, two were previously considered pathogenic (p.Q90R and p.R2639Q), three were predicted in silico to be pathogenic (p.R315C, p.E1357D and p.D2579H), and the rest three were predicted to be benign (p.N1234S, p.R1308Q, and p.T2267S). This is the first report of DSP genetic screening in Chinese SUNDS and Brugada syndrome. Our results imply that DSP mutations contribute to the genetic cause of some SUNDS victims and maybe a new susceptible gene for Brugada syndrome.
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