Use of the newborn screening card to define cause of death in a 12-year-old diagnosed with epilepsy

J Paediatr Child Health. 2004 Nov;40(11):651-3. doi: 10.1111/j.1440-1754.2004.00498.x.


Post-mortem investigation of sudden death in young people frequently reveals no overt cause for the death. Full investigation is hampered if tissue or blood is not retained for DNA analysis. We report a post mortem molecular diagnosis of long QT syndrome in a 12-year-old boy diagnosed with epilepsy who died suddenly playing sport. The DNA was extracted from an archived blood spot on his newborn screening ('Guthrie') card, which had been taken from him at 6 days of age. A missense mutation was detected in exon 5 of the KCNQ1 gene; R243C (835C > T), associated with long QT type 1. The same mutation was found in the mother (who now takes effective preventative therapy), but not in the sib who has now been reassured that she is not at risk of sudden death.

Publication types

  • Case Reports

MeSH terms

  • Arginine
  • Autopsy
  • Child
  • Cysteine
  • DNA Mutational Analysis
  • Death, Sudden, Cardiac / etiology*
  • Death, Sudden, Cardiac / pathology
  • Electrocardiography
  • Genetic Predisposition to Disease
  • Humans
  • Infant, Newborn
  • KCNQ Potassium Channels
  • KCNQ1 Potassium Channel
  • Long QT Syndrome / congenital
  • Long QT Syndrome / diagnosis*
  • Long QT Syndrome / genetics*
  • Male
  • Molecular Diagnostic Techniques
  • Mutation, Missense
  • Neonatal Screening*
  • Pedigree
  • Potassium Channels, Voltage-Gated / genetics*


  • KCNQ Potassium Channels
  • KCNQ1 Potassium Channel
  • KCNQ1 protein, human
  • Potassium Channels, Voltage-Gated
  • Arginine
  • Cysteine