Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death View Full Text


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Article Info

DATE

2017-07-27

AUTHORS

Yuki Oshima, Takuma Yamamoto, Taisuke Ishikawa, Hiroyuki Mishima, Aya Matsusue, Takahiro Umehara, Takehiko Murase, Yuki Abe, Shin-ichi Kubo, Koh-ichiro Yoshiura, Naomasa Makita, Kazuya Ikematsu

ABSTRACT

Tandem mass screening has recently been started in Japan, but genetic screening has yet to be widely performed in neonates and many unexpected deaths are still being reported. We previously reported two cases of sudden infant death that may have been prevented had newborn screening been performed. In this study, we retrospectively reviewed 71 cases of sudden infant death for 66 arrhythmia- and 63 metabolic disease-related genes to identify how many cases of sudden infant death may have been prevented had mass screening been performed. Next-generation sequencing revealed that six cases had arrhythmia-related gene variants and five cases had metabolic disease-related gene variants. Had genetic screening been performed in addition to biochemical and physiological screening during the neonatal period to identify those at risk of arrhythmia or metabolic disease, these infants could have been diagnosed and treated, preventing their deaths. As such, screening of newborns may prevent sudden infant death. More... »

PAGES

989-995

References to SciGraph publications

  • 2008-11. Cardiac Ion Channel Gene Mutations in Sudden Infant Death Syndrome in PEDIATRIC RESEARCH
  • 1999-09. Cardiac conduction defects associate with mutations in SCN5A in NATURE GENETICS
  • 2016-06-07. Association of common and rare variants of SCN10A gene with sudden unexplained nocturnal death syndrome in Chinese Han population in INTERNATIONAL JOURNAL OF LEGAL MEDICINE
  • 1996-05. Two novel gene mutations (Glu174→Lys, Phe383→Tyr) causing the “hepatic” form of carnitine palmitoyltransferase II deficiency in HUMAN GENETICS
  • 1995-09. Diagnosis of Inborn Errors of Metabolism from Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated Electrospray Tandem Mass Spectrometry in PEDIATRIC RESEARCH
  • 2003-01. A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency in JOURNAL OF HUMAN GENETICS
  • 2017-03-18. TRPM4 non-selective cation channel variants in long QT syndrome in BMC MEDICAL GENOMICS
  • 2012-09-21. The Ruby UCSC API: accessing the UCSC genome database using Ruby in BMC BIOINFORMATICS
  • 2009-11-22. HERG1 channelopathies in PFLÜGERS ARCHIV - EUROPEAN JOURNAL OF PHYSIOLOGY
  • 2002-03. Emery-Dreifuss muscular dystrophy in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-04-12. Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency in JIMD REPORTS, VOLUME 33
  • 2014-12-13. Post-mortem Whole Exome Sequencing with Gene-Specific Analysis for Autopsy-Negative Sudden Unexplained Death in the Young: A Case Series in PEDIATRIC CARDIOLOGY
  • 2009-03-26. Contribution of Long-QT Syndrome Genetic Variants in Sudden Infant Death Syndrome in PEDIATRIC CARDIOLOGY
  • 2008-12. Variations in DSG2: V56M, V158G and V920G are not pathogenic for arrhythmogenic right ventricular dysplasia/cardiomyopathy in NATURE CLINICAL PRACTICE CARDIOVASCULAR MEDICINE
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/jhg.2017.79

    DOI

    http://dx.doi.org/10.1038/jhg.2017.79

    DIMENSIONS

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    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/28747690


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    32 schema:description Tandem mass screening has recently been started in Japan, but genetic screening has yet to be widely performed in neonates and many unexpected deaths are still being reported. We previously reported two cases of sudden infant death that may have been prevented had newborn screening been performed. In this study, we retrospectively reviewed 71 cases of sudden infant death for 66 arrhythmia- and 63 metabolic disease-related genes to identify how many cases of sudden infant death may have been prevented had mass screening been performed. Next-generation sequencing revealed that six cases had arrhythmia-related gene variants and five cases had metabolic disease-related gene variants. Had genetic screening been performed in addition to biochemical and physiological screening during the neonatal period to identify those at risk of arrhythmia or metabolic disease, these infants could have been diagnosed and treated, preventing their deaths. As such, screening of newborns may prevent sudden infant death.
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