FAMILIAL HYPERTROPHIC CARDIOMYOPATHY WITH WOLFF-PARKINSON-WHITE SYNDROME MAPS TO A LOCUS ON CHROMOSOME 7Q3

Citation
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
Citations number
36
Categorie Soggetti
Medicine, Research & Experimental
ISSN journal
00219738
Volume
96
Issue
3
Year of publication
1995
Pages
1216 - 1220
Database
ISI
SICI code
0021-9738(1995)96:3<1216:FHCWWS>2.0.ZU;2-M
Abstract
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.