What does this research mean for the field?

A novel -1 donor splice site mutation in the KVLQT1 gene, which alters splicing characteristics without changing the amino acid sequence, is associated with Long QT Syndrome and may result in a milder clinical course due to partial correct splicing. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

June 1, 1998Journal of Cardiovascular Electrophysiology

Novel Donor Splice Site Mutation in the KVLQT1 Gene is Associated with Long QT Syndrome

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Population

A kindred with two affected members with Long QT Syndrome (QTc = 0.61 and 0.54 sec)

Design

Case_series

Authors

JKJørgen K. KantersElectrophysiology LLLars Allan LarsenUniversity of Copenhagen MOMarianne OrholmStatens Serum Institut

Discussion

Member takes

Implication

May be misinterpreted as normal variant in LQTS testing; extends KVLQT1 splice spectrum but leaves validation open.

Structured PICO

Population

A kindred with two affected members with Long QT Syndrome (QTc = 0.61 and 0.54 sec)

Intervention

Genetic analysis (SSCP and DNA sequencing) of the KVLQT1 gene

Outcome

Identification of a novel mutation in the KVLQT1 genesurrogate

A novel donor splice site mutation in the KVLQT1 gene, which alters splicing without causing an amino acid change, is associated with Long QT Syndrome and may be misinterpreted as a normal variant.

Cite This Study

Kanters et al. (1998) studied this question.

synapsesocial.com/papers/6a1e42b040bc8a3dd768b000 https://doi.org/10.1111/j.1540-8167.1998.tb00944.x

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Novel Donor Splice Site Mutation in the KVLQT1 Gene is Associated with Long QT Syndrome

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Novel Donor Splice Site Mutation in the KVLQT1 Gene is Associated with Long QT Syndrome

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider