Molecular diagnosis in a child with sudden infant death syndrome

Peter J. Schwartz, Silvia G. Priori, Raffaella Bloise, Carlo Napolitano, Elena Ronchetti, Andrea Piccinini, Carlo Goj, Günter Breithardt, Eric Schulze-Bahr, Horst Wedekind, Janni Nastoli

Research output: Contribution to journalArticle

Abstract

Although sudden infant death syndrome (SIDS) has been associated with long QT syndrome - a genetic disorder that causes arrhythmia - a causal link has not been shown. We screened genomic DNA from a child who died of SIDS and identified a de-novo mutation in KVLQT1, the gene most frequently associated with long QT syndrome. This mutation (C350T) had already been identified in an unrelated family that was affected by long QT syndrome. These results confirm the hypothesis that some deaths from SIDS are caused by long QT syndrome and support implementation of neonatal electrocardiographic screening.

Original languageEnglish
Pages (from-to)1342-1343
Number of pages2
JournalLancet
Volume358
Issue number9290
DOIs
Publication statusPublished - Oct 20 2001

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ASJC Scopus subject areas

  • Medicine(all)

Cite this

Schwartz, P. J., Priori, S. G., Bloise, R., Napolitano, C., Ronchetti, E., Piccinini, A., Goj, C., Breithardt, G., Schulze-Bahr, E., Wedekind, H., & Nastoli, J. (2001). Molecular diagnosis in a child with sudden infant death syndrome. Lancet, 358(9290), 1342-1343. https://doi.org/10.1016/S0140-6736(01)06450-9