Ca. Macrae et al., FAMILIAL HYPERTROPHIC CARDIOMYOPATHY WITH WOLFF-PARKINSON-WHITE SYNDROME MAPS TO A LOCUS ON CHROMOSOME 7Q3, The Journal of clinical investigation, 96(3), 1995, pp. 1216-1220
We have mapped a disease locus for Wolff-Parkinson-White syndrome (WPW
) and familial hypertrophic cardiomyopathy (PHC) segregating in a larg
e kindred to chromosome 7 band q3, Although WPW syndrome and FHC have
been observed in members of the same family in prior studies, the rela
tionship between these two diseases has remained enigmatic. A large fa
mily with 25 surviving individuals who are affected by one or both of
these conditions was studied, The disease locus is closely linked to l
oci D7S688, D7S505, and D7S483 (maximum two point LOD score at D7S505
was 7.80 at theta = 0), While four different FHC loci have been descri
bed this is the first locus that can be mutated to cause both WPW and/
or FHC.