Mapping of a gene for long QT syndrome to chromosome 4q25-27

JJ Schott, F Charpentier, S Peltier, P Foley… - American journal of …, 1995 - ncbi.nlm.nih.gov
JJ Schott, F Charpentier, S Peltier, P Foley, E Drouin, JB Bouhour, P Donnelly, G Vergnaud
American journal of human genetics, 1995ncbi.nlm.nih.gov
Long QT syndrome (LQTS) is a heterogeneous inherited disorder causing syncope and
sudden death from ventricular arrhythmias. A first locus for this disorder was mapped to
chromosome 11p15. 5. However, locus heterogeneity has been demonstrated in several
families, and two other loci have recently been located on chromosomes 7q35-36 and 3p21-
24. We used linkage analysis to map the locus in a 65-member family in which LQTS was
associated with more marked sinus bradycardia than usual, leading to sinus node …
Abstract
Long QT syndrome (LQTS) is a heterogeneous inherited disorder causing syncope and sudden death from ventricular arrhythmias. A first locus for this disorder was mapped to chromosome 11p15. 5. However, locus heterogeneity has been demonstrated in several families, and two other loci have recently been located on chromosomes 7q35-36 and 3p21-24. We used linkage analysis to map the locus in a 65-member family in which LQTS was associated with more marked sinus bradycardia than usual, leading to sinus node dysfunction. Linkage to chromosome 11p15. 5, 7q35-36, or 3p21-24 was excluded. Positive linkage was obtained for markers located on chromosome 4q25-27. A maximal LOD score of 7.05 was found for marker D4S402. The identification of a fourth locus for LQTS confirms its genetic heterogeneity. Locus 4q25-27 is associated with a peculiar phenotype within the LQTS entity.
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