January 1, 1998Human Mutation

Molecular genetics of the long QT syndrome: Two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred

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Population

44 unrelated probands with long QT syndrome and a large pedigree comprising 30 affected and 43 nonaffected…

Comparison

Genetic screening for KVLQT1 gene mutations… vs Nonaffected family members

Design

Cross-sectional

Authors

KSKirsi SaarinenUniversity of Helsinki HSHeikki SwanElectrophysiology KKKatariina KainulainenUniversity of Helsinki

Discussion

Member takes

Implication

Supports targeted genetic screening in LQTS families; extends KVLQT1 variant spectrum but remains hypothesis-generating.

Structured PICO

Population

44 unrelated probands with long QT syndrome (LQTS) and a large pedigree comprising 30 affected and 43 nonaffected individuals

Intervention

Genetic screening for KVLQT1 gene mutations using single-strand conformational polymorphism (SSCP) and DNA sequencing

Comparator

Nonaffected family members (for phenotypic expression analysis)

Outcome

Identification of KVLQT1 gene mutations and phenotypic expression (QTc interval)surrogate

The identification of two novel KVLQT1 mutations (T182I and D188N) and their correlation with prolonged QTc intervals emphasizes the diagnostic utility of DNA analysis in families with long QT syndrome.

Cite This Study

Saarinen et al. (1998) studied this question.

synapsesocial.com/papers/6a1e42b040bc8a3dd768b003 https://doi.org/10.1002/(sici)1098-1004(1998)11:2<158::aid-humu9>3.0.co;2-f

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Molecular genetics of the long QT syndrome: Two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Molecular genetics of the long QT syndrome: Two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider