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Article

Functional characterization of a novel hERG variant in a family with recurrent sudden infant death syndrome: Retracting a genetic diagnosis.

Forensic science international - 1 Mar 2018

Sergeev Valentine, Perry Frances, Roston Thomas M, Sanatani Shubhayan, Tibbits Glen F, Claydon Thomas W

Abstract excerpt

Long QT syndrome (LQTS) is the most common cardiac ion channelopathy and has been found to be responsible for approximately 10% of sudden infant death syndrome (SIDS) cases. Despite increasing use of broad panels and now whole exome sequencing (WES) in the investigation of SIDS, the probability of identifying a pathogenic mutation in a SIDS victim is low. We report a family-based study who are afflicted by...

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PMID: 29331839
DOI: 10.1016/j.forsciint.2017.12.028

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