Genetic mapping in a large kindred demonstrated that the disease locus for both familial hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome is located on chromosome 7q3 with a maximum LOD score of 7.80.
Observational (n=43)
This study identifies the first genetic locus on chromosome 7q3 that can be mutated to cause both Wolff-Parkinson-White syndrome and familial hypertrophic cardiomyopathy.
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.
MacRae et al. (1995) conducted an observational in Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome (n=43). Genetic mapping was evaluated on Maximum two-point LOD score at locus D7S505. Genetic mapping in a large kindred demonstrated that the disease locus for both familial hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome is located on chromosome 7q3 with a maximum LOD score of 7.80.