What is the clinical evidence from this study?

Study design: Observational. Population: Long QT syndrome (n=5). Intervention: KCNQ1, KCNH2, and SCN5A gene mutations. Primary outcome: Frequency of major LQTS-causing gene mutations.

January 1, 2015International Heart JournalOpen Access

Mutation Analysis of KCNQ1, KCNH2 and SCN5A Genes in Taiwanese Long QT Syndrome Patients

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Key result

Two-fifths (40%) of Taiwanese patients with Long QT syndrome presented with a major LQTS-causing gene mutation, specifically p.T309I in KCNQ1 and p.R744fs in KCNH2.

Population

5 Taiwanese patients with Long QT syndrome (LQTS) and family members of 3 of these patients.

Design

Case_series

Authors

YCYa‐Sian ChangChang Bing Show Chwan Memorial Hospital YYYiwen YangZhejiang Chinese Medical University YLYen‐Nien LinElectrophysiology

Discussion

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Implication

May inform East Asian LQTS genetics; leaves open clinical utility pending larger validation studies.

Study Design

Type

Observational (n=5)

Multicenter

Structured PICO

Population

5 Taiwanese patients recently diagnosed with Long QT syndrome and their family members, screened for mutations in the KCNQ1, KCNH2, and SCN5A genes.

Exposure

Genetic screening using high resolution melting (HRM) analysis and direct DNA sequencing of KCNQ1, KCNH2, and SCN5A genes.

Outcome

Frequency of KCNQ1, KCNH2, and SCN5A mutations.surrogate

High resolution melting analysis combined with direct sequencing successfully identified major LQTS-causing gene mutations in 40% of a small Taiwanese cohort, demonstrating its utility as a time- and cost-saving genetic screening tool.

Limitations

High resolution melting (HRM) analysis cannot detect mutations encompassing the whole gene or entire exon.
Homozygotes are more difficult to detect using HRM analysis.
Small sample size requiring future studies to collect more LQTS samples to confirm the data.
HRM cannot detect mutations encompassing the whole gene or entire exon
Amplicon lengths of 100-300 bp are generally recommended, limiting design
Homozygotes are more difficult to detect from melting curves than heterozygotes

Cite This Study

Chang et al. (2015) conducted an observational in Long QT syndrome (n=5). KCNQ1, KCNH2, and SCN5A gene mutations was evaluated on Frequency of major LQTS-causing gene mutations. Two-fifths (40%) of Taiwanese patients with Long QT syndrome presented with a major LQTS-causing gene mutation, specifically p.T309I in KCNQ1 and p.R744fs in KCNH2.

synapsesocial.com/papers/6a99affb0885b2e474a85db6 https://doi.org/10.1536/ihj.14-428

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Mutation Analysis of KCNQ1, KCNH2 and SCN5A Genes in Taiwanese Long QT Syndrome Patients

Discussion

Member takes

Implication

Study Design

Structured PICO

Limitations

Cite This Study

Mutation Analysis of KCNQ1, KCNH2 and SCN5A Genes in Taiwanese Long QT Syndrome Patients

Discussion

Member takes

Implication

Study Design

Structured PICO

Limitations

Cite This Study

Also Consider

Also Consider