Key result
Direct DNA sequencing followed by whole-exome sequencing achieved a pathogenic mutation detection rate of 44% in cases of exertion-related sudden unexplained death in the young.
Why the study?
Does whole-exome sequencing improve the diagnostic yield of pathogenic mutations in exertion-related sudden unexplained death in the young?
Population
32 cases of exertion-related sudden unexplained death in the young referred by Medical Examiners from 1998…
Design
Cohort
Authors
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May support molecular autopsy after exertion-related sudden death; leaves open prospective validation of routine sequencing.
Observational (n=32)
Does whole-exome sequencing improve the diagnostic yield of pathogenic mutations in exertion-related sudden unexplained death in the young?
Molecular screening using direct DNA sequencing followed by whole-exome sequencing yields a pathogenic mutation in 44% of exertion-related sudden unexplained death in the young, with the highest diagnostic yield in children under 10 years of age.
Anderson et al. (2016) conducted an observational in Exertion-related sudden unexplained death in the young (n=32). Direct DNA sequencing followed by whole-exome sequencing was evaluated on Pathogenic mutation detection rate. Direct DNA sequencing followed by whole-exome sequencing achieved a pathogenic mutation detection rate of 44% in cases of exertion-related sudden unexplained death in the young.
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