Investigating the Genetic Causes of Sudden Unexpected Death in Children Through Targeted Next-Generation Sequencing Analysis
| Autor: | Charles M. Stevens, Thambirajah Balachandra, Susan M. Phillips, Sanam Shafaatalab, Luisa D’Amato, Miguel Alcaide, Laura J. Dewar, Glen F. Tibbits, Daniel Fornika, Ryan D. Morin, Shubhayan Sanatani |
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| Rok vydání: | 2017 |
| Předmět: |
Male
0301 basic medicine Pediatrics medicine.medical_specialty Cardiomyopathy 030204 cardiovascular system & hematology Sudden death Unexpected death Sodium-Calcium Exchanger DNA sequencing Cohort Studies 03 medical and health sciences 0302 clinical medicine Genetics Humans Medicine Genetics (clinical) Genetic testing medicine.diagnostic_test business.industry Troponin I Infant Newborn High-Throughput Nucleotide Sequencing Infant Arrhythmias Cardiac DNA Sequence Analysis DNA medicine.disease Death Sudden Cardiac Phenotype 030104 developmental biology Child Preschool Molecular autopsy Female Cardiology and Cardiovascular Medicine business Plakophilins |
| Zdroj: | Circulation: Cardiovascular Genetics. 10 |
| ISSN: | 1942-3268 1942-325X |
| DOI: | 10.1161/circgenetics.116.001738 |
| Popis: | Background— Inherited arrhythmia syndromes are responsible for a significant portion of autopsy-negative sudden unexpected death (SUD) cases, but molecular autopsy used to identify potentially causal variants is not routinely included in SUD investigations. We collaborated with a medical examiner's office to assist in finding a diagnosis for their autopsy-negative child SUD cases. Methods and Results— 191 child SUD cases ( Conclusions— We have identified variants that may assist in the diagnosis of at least 6.3% of autopsy-negative child SUD cases and reduce risk of future SUD in surviving relatives. We recommend a cautious approach to variant interpretation. We also suggest inclusion of cardiomyopathy genes as well as other candidate SUD genes in molecular autopsy analyses. |
| Databáze: | OpenAIRE |
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