Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families

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Winbo, AnnikaUmeå universitet,Pediatrik (author)

Phenotype, origin and estimated prevalence of a common long QT syndrome mutation : a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families

Article/chapterEnglish2014

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2014-02-19
BioMed Central,2014
electronicrdacarrier

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LIBRIS-ID:oai:DiVA.org:umu-88970
https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-88970URI
https://doi.org/10.1186/1471-2261-14-22DOI

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Language:English
Summary in:English

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Subject category:art swepub-publicationtype

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Background: The R518X/KCNQ1 mutation is a common cause of autosomal recessive (Jervell and Lange Nielsen Syndrome-JLNS) and autosomal dominant long QT syndrome (LQTS) worldwide. In Sweden p.R518X accounts for the majority of JLNS cases and is the second most common cause of LQTS. Here we investigate the clinical phenotype and origin of Swedish carriers of the p. R518X mutation. Methods: The study included 19 Swedish p. R518X index families, ascertained by molecular genetics methods (101 mutation-carriers, whereof 15 JLNS cases and 86 LQTS cases). In all families analyses included assessment of clinical data (symptoms, medications and manually measured electrocardiograms), genealogy (census records), haplotype (microsatellite markers) as well as assessment of mutation age and associated prevalence (ESTIAGE and DMLE computer software). Results: Clinical phenotype ranged from expectedly severe in JLNS to surprisingly benign in LQTS (QTc 576 +/- 61 ms vs. 462 +/- 34 ms, cumulative incidence of (aborted) cardiac arrest 47% vs. 1%, annual non-medicated incidence rate (aborted) cardiac arrest 4% vs. 0.04%). A common northern origin was found for 1701/1929 ancestors born 1650-1950. Historical geographical clustering in the coastal area of the Pite River valley was shown. A shared haplotype spanning the KCNQ1 gene was seen in 17/19 families. Mutation age was estimated to 28 generations (95% CI 19;41). A high prevalence of Swedish p. R518X heterozygotes was suggested (similar to 1: 2000-4000). Conclusions: R518X/KCNQ1 occurs as a common founder mutation in Sweden and is associated with an unexpectedly benign phenotype in heterozygous carriers.

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Pediatrik hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Pediatrics hsv//eng
Long QT Syndrome
Genotype-phenotype correlations
Clinical phenotype
Founder mutation
Mutation age
Prevalence estimate

Added entries (persons, corporate bodies, meetings, titles ...)

Stattin, Eva-LenaUmeå universitet,Medicinsk och klinisk genetik(Swepub:umu)evst0015 (author)
Nordin, CharlotteUmeå universitet,Pediatrik (author)
Diamant, Ulla-BrittUmeå universitet,Kardiologi,Heart Centre(Swepub:umu)uldi0001 (author)
Persson, JohanUmeå universitet,Pediatrik (author)
Jensen, Steen M.Umeå universitet,Kardiologi(Swepub:umu)stje0001 (author)
Rydberg, AnnikaUmeå universitet,Pediatrik(Swepub:umu)anry0014 (author)
Umeå universitetPediatrik (creator_code:org_t)

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In:BMC Cardiovascular Disorders: BioMed Central14, s. 22-1471-22611471-2261

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