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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.

Original publication

DOI

10.1172/JCI118154

Type

Journal article

Journal

J Clin Invest

Publication Date

09/1995

Volume

96

Pages

1216 - 1220

Keywords

Adolescent, Adult, Cardiomyopathy, Hypertrophic, Child, Chromosome Mapping, Chromosomes, Human, Pair 7, Female, Genetic Linkage, Genetic Markers, Humans, Lod Score, Male, Middle Aged, Pedigree, Recombination, Genetic, Wolff-Parkinson-White Syndrome