A founder mutation of the potassium channel KCNQ1 in long QT syndrome: Implications for estimation of disease prevalence and molecular diagnostics

Journal of the American College of Cardiology

Volumn 37, Issue 2, 2001, Pages 562-568

  Piippo, Kirsi ^a   Swan, Heikki ^a   Pasternack, Michael ^b   Chapman, Hugh ^b   Paavonen, Kristian ^a   Viitasalo, Matti ^a   Toivonen, Lauri ^a   Kontula, Kimmo ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

POTASSIUM CHANNEL;

ADOLESCENT; ADULT; AGED; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHILD; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; QT INTERVAL;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; DEAFNESS; FEMALE; FINLAND; FOUNDER EFFECT; GENE FREQUENCY; GENETICS, POPULATION; GENOTYPE; HUMANS; KCNQ POTASSIUM CHANNELS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; MALE; MIDDLE AGED; MUTATION, MISSENSE; PATCH-CLAMP TECHNIQUES; PEDIGREE; PHENOTYPE; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED; SYNDROME;

EID: 0035134718     PISSN: 07351097     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0735-1097(00)01124-4     Document Type: Article

References (35)

1. Idiopathic long QT syndrome: Progress and questions
2. The long QT syndrome. Prospective longitudinal study of 328 families
3. Congenital cardiac arrhythmia
4. New familial cardiac syndrome in children
5. Congenital deaf mutism, functional heart disease with prolongation of the Q-T interval, and sudden death
6. The molecular genetics of the long QT syndrome: Genes causing fainting and sudden death
7. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
8. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
9. Ks function
10. MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia
11. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
12. Ks cardiac potassium current
13. Ks potassium channel
14. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome
15. IsK and KVLQT1: Mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome
16. Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements
17. A 2.5-Mb transcript map of a tumor-suppressing subchromosomal transferable fragment from 11p15.5, and isolation and sequence analysis of three novel genes
18. Homozygosity for a HERG potassium channel mutation causes a severe form of long QT syndrome: Identification of an apparent founder mutation in the Finns
19. Splicing mutations in KCNQ1. A mutation hot spot at codon 344 that produces in-frame transcripts
20. Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia
21. Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome
22. + channel gene and identification of C-terminal mutations in the long-QT syndrome
23. + channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias
24. KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome
25. Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene
26. A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly
27. 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
28. Influence of genotype on the clinical course of the long-QT syndrome
29. Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KVLQT1 and HERG potassium channel defects
30. Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome
31. Comparison of clinical and genetic variables of cardiac events associated with loud noise versus swimming among subjects with the long QT syndrome
32. Molecular genetics of Finnish disease heritage
33. Tracing an ancestral mutation: Genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus
34. Evidence of a long QT founder gene with varying phenotype expression in South African families
35. Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects