Other

University of Utah Research Foundation

Genzyme Corporation

Mark E Curran

Mark T Keating

Timothy C Burn

Igor Splawski

Timothy D Connors

Michael C Sanguinetti

Gregory M Landes

Qing K Wang

The genomic structure including the sequence of the intron/exon junctions is disclosed for KVLQT1 and KCNE1 which are genes associated with long QT syndrome. Additional sequence data for the two genes ARE also disclosed. Also disclosed are newly found mutations in KVLQT1 which result in long QT syndrome. The intron/exon junction sequence data allow for the design of primer pairs to amplify and sequence across all of the exons of the two genes. This can be used to screen persons for the presence of mutations which cause long QT syndrome. Assays can be performed to screen persons for the presence of mutations in either the DNA or proteins. The DNA and proteins may also be used in assays to screen for drugs which will be useful in treating or preventing the occurrence of long QT syndrome.

KVLQT1&#x2014;a long QT syndrome gene

Diagnostic method for KVLQT1&mdash;a long QT syndrome gene

KVLQT1&mdash;a long QT syndrome gene

KVLQT1&mdash;a long qt syndrome gene

The genomic structure including the sequence of the intron/exon junctions is disclosed for KVLQT1 and KCNE1 which are genes associated with long QT syndrome. Additional sequence data for the two genes are also disclosed. Also disclosed are newly found mutations in KVLQT1 which result in long QT syndrome. The intron/exon junction sequence data allow for the design of primer pairs to amplify and sequence across all of the exons of the two genes. This can be used to screen persons for the presence of mutations which cause long QT syndrome. Assays can be performed to screen persons for the presence of mutations in either the DNA or proteins. The DNA and proteins may also be used in assays to screen for drugs which will be useful in treating or preventing the occurrence of long QT syndrome.

The invention relates to the identification of the molecular basis of long QT syndrome. More specifically, the invention has identified that SCN5A and HERG cause long QT syndrome. Molecular variants of the SCN5A and HERG genes contribute to the syndrome. The analysis of these genes will provide an early diagnosis of subjects with long QT syndrome. The diagnostic methods comprise analyzing the nucleic acid sequences of the SCN5A or HERG genes of an individual to be tested and comparing them with the nucleic acid sequence of the native, nonvariant genes. Alternatively, the amino acid sequences of SCN5A or HERG may be analyzed for mutations which cause long QT syndrome. Presymptomatic diagnosis of long QT syndrome will enable practitioners to treat this disorder using existing medical therapy.

Long QT syndrome genes

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Encinitas, CA, United States of America

Mark E Curran