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

J J Schott 1 F Charpentier 2 S Peltier 3 P Foley 4 E Drouin 5 J B Bouhour P Donnelly 6 Gilles Vergnaud 7, 8 L Bachner J P Moisan
1 ITX - unité de recherche de l'institut du thorax UMR1087 UMR6291
2 I2M - Institut de Mécanique et d'Ingénierie de Bordeaux
3 Université de Poitiers
4 INERIS - Institut National de l'Environnement Industriel et des Risques
5 Tumeurs endocrines digestives : mécanismes de la tumorigenèse et de la progression tumorale
6 Department of Statistics [Oxford]
7 IGM - Institut de génétique et microbiologie [Orsay]
8 ENSTA Paris - École Nationale Supérieure de Techniques Avancées
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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Contributor : Gilles Vergnaud <>
Submitted on : Saturday, June 6, 2015 - 4:51:49 PM
Last modification on : Wednesday, July 3, 2019 - 10:48:05 AM

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J J Schott, F Charpentier, S Peltier, P Foley, E Drouin, et al.. Mapping of a gene for long QT syndrome to chromosome 4q25-27.. American Journal of Human Genetics, Elsevier (Cell Press), 1995, 57 (5), pp.1114-22. ⟨hal-01160657⟩

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