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December 1, 2005Genetic Testing

Gene Sequencing in Neonates and Infants with the Long QT Syndrome

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Population

7 neonates and infants with autosomal dominant long QT syndrome (LQTS)

Design

Case_series

Authors

SSSung Han ShimCHA UniversityMIMasamichi ItoSamsung (South Korea)TMThomas A. MaherPennsylvania State University

Discussion

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Implication

Multiple mutations may indicate severe neonatal LQTS; hypothesis-generating for compound heterozygosity and does not yet support practice changes.

Structured PICO

P
Population
7 neonates and infants with autosomal dominant long QT syndrome (LQTS)
I
Intervention
DNA extraction and mutation analysis of 18 selected exons in 5 LQTS genes (KCNQ1, HERG, SCN5A, KCNE1, and KCNE2)
O
Outcome
Detection of genetic mutations in LQTS genes

Neonates and infants with early manifestations of long QT syndrome frequently possess multiple genetic mutations, suggesting a more severe phenotype in compound heterozygotes or digenic inheritance.

Limitations

  • small sample size (much larger studies are needed)

Cite This Study

Shim et al. (2005) studied this question.

synapsesocial.com/papers/6a71651af44fa9f079df315chttps://doi.org/10.1089/gte.2005.9.281
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Effectiveness and Limitations of β-Blocker Therapy in Congenital Long-QT Syndrome2000 · 844 citations
  2. 2Novel KCNQ1 and HERG missense mutations in Dutch long-QT families1999 · 64 citations
  3. 3Compound Mutations2004 · 316 citations
  4. 4Congenital Long-QT Syndrome Caused by a Novel Mutation in a Conserved Acidic Domain of the Cardiac Na + Channel1999 · 144 citations
  5. 5Screening for Mutations and Polymorphisms in the Genes KCNH2 and KCNE2 Encoding the Cardiac HERG/MiRP1 Ion Channel: Implications for Acquired and Congenital Long Q-T Syndrome2001 · 82 citations