Open Access Highly Accessed Research article

Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing

Eva-Lena Stattin1*, Ida Maria Boström1, Annika Winbo2, Kristina Cederquist1, Jenni Jonasson1, Björn-Anders Jonsson1, Ulla-Britt Diamant3, Steen M Jensen3, Annika Rydberg2 and Anna Norberg1

Author Affiliations

1 Department of Medical Biosciences, Medical and Clinical Genetics, Umeå University, Umeå, Sweden

2 Department of Clinical Sciences, Paediatrics, Umeå University, Umeå, Sweden

3 Heart Centre and Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden

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BMC Cardiovascular Disorders 2012, 12:95  doi:10.1186/1471-2261-12-95

Published: 25 October 2012

Additional files

Additional file 1:

Phylogenetic alignments for eleven novel mutations identified in theKCNQ1, KCNH2,andSCN5Agenes in 200 index cases referred for genetic screening with respect to LQTS in a Swedish cohort.

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Additional file 2:

Non-pathogenic variants in the KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 genes. Variants within RYR2 are not reported due to small sample size. All missense substitutions, rare silent substitutions (MAF less than 5%) and variants within −5 or +5 from the exon boundary are reported. Common silent substitutions (MAF more than 5%) and intronic variants more than 5 bp from an exon/intron boundary are not reported. NA = frequency of data not available.

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