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Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3

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Item Type:Article
Title:Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3
Creators Name:MacRae, C.A. and Ghaisas, N. and Kass, S. and Donnelly, S. and Basson, C.T. and Watkins, H.C. and Anan, R. and Thierfelder, L.H. and McGarry, K. and Rowland, E. and McKenna, W.J. and Seidman, J.G. and Seidman, C.E.
Abstract:We have mapped a disease locus for Wolff-Parkinson-White syndrome (WPW) and familial hypertrophic cardiomyopathy (FHC) segregating in a large kindred to chromosome 7 band q3. Although WPW syndrome and FHC have been observed in members of the same family in prior studies, the relationship between these two diseases has remained enigmatic. A large family with 25 surviving individuals who are affected by one or both of these conditions was studied. The disease locus is closely linked to loci D7S688, D7S505, and D7S483 (maximum two point LOD score at D7S505 was 7.80 at theta = 0). While four different FHC loci have been described this is the first locus that can be mutated to cause both WPW and/or FHC.
Keywords:Hypertrophic Cardiomyopathy, Chromosome Mapping, Human Chromosomes Pair 7, Genetic Markers, Linkage (Genetics), Lod Score, Pedigree, Genetic Recombination, Wolff-Parkinson-White Syndrome
Source:Journal of Clinical Investigation
ISSN:0021-9738
Publisher:American Society for Clinical Investigation (U.S.A.)
Volume:96
Number:3
Page Range:1216-1220
Date:September 1995
Official Publication:https://doi.org/10.1172/JCI118154
PubMed:View item in PubMed

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