July 11, 2013Clinical Genetics

LQTS in Northern BC : homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function

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Why the study?

Does homozygosity for the KCNQ1 V205M mutation result in a more severe cardiac phenotype and auditory dysfunction compared to heterozygosity or no mutation?

Structured PICO

Does homozygosity for the KCNQ1 V205M mutation result in a more severe cardiac phenotype and auditory dysfunction compared to heterozygosity or no mutation?

Population

102 individuals from two First Nations communities in northern British Columbia, including 4 KCNQ1 V205M homozygous, 41 V205M heterozygous carriers, and 57 first to third degree relatives without mutations.

Intervention

Homozygosity for KCNQ1 V205M mutation

Comparator

Heterozygosity for KCNQ1 V205M mutation or no mutation (relatives)

Outcome

Peak QTc and cardiac phenotype severitysurrogate

Homozygosity for the KCNQ1 V205M mutation causes a severe cardiac LQTS phenotype without the deafness typically seen in autosomal recessive Jervell and Lange-Nielsen syndrome.

Discussion

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Implication

V205M homozygosity may signal higher LQTS risk without deafness; supports expanded KCNQ1 phenotypic spectrum in observational data.

Cite This Study

Jackson et al. (2013) studied this question.

synapsesocial.com/papers/6a8e757a96767b15a7ffefcc https://doi.org/10.1111/cge.12235

View Full Paper

Ask AI

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LQTS in Northern BC : homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function

Structured PICO

Discussion

Implication

Cite This Study

LQTS in Northern BC : homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function

Structured PICO

Discussion

Implication

Cite This Study

Also Consider

Also Consider