Findings also reveal many inherited variants of unknown significance
FRIDAY, Oct. 14, 2016 (HealthDay News) — Molecular autopsy is able to uncover a likely or plausible cause of death in 40 percent of cases of unexpected death in young people, according to a research letter published in the Oct. 11 issue of the Journal of the American Medical Association.
Ali Torkamani, Ph.D., from the Scripps Translational Science Institute in La Jolla, Calif., and colleagues performed exome sequencing on blood or tissue samples collected from 25 deceased persons (aged ≥45 years with sudden unexpected death between October 2014 to November 2015) and parents, if available. Mutations were assessed for possible cause of death.
The researchers found that clinical autopsies revealed the likely cause of death in five cases. A likely cause of death was identified by molecular autopsy in four cases, a plausible cause in six cases, and a speculative cause in seven cases. No mutations were identified in eight cases. Clinical autopsy corroborated the likely genetic cause of death in two of five cases. Seven of 10 cases of likely and plausible pathogenic mutations were inherited from relatives who did not die suddenly.
“Although molecular autopsies may help identify genetic causes of sudden unexpected death, a comprehensive and systematic effort to collect and share genetic and phenotypic data is needed to more precisely define pathogenic variants and provide quantifiable risks to living relatives,” the authors write.
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