title: Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3.
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.
authors.affiliation: Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.
authors.forename: C A
authors.initials: CA
authors.lastname: MacRae
authors.forename: N
authors.initials: N
authors.lastname: Ghaisas
authors.forename: S
authors.initials: S
authors.lastname: Kass
authors.forename: S
authors.initials: S
authors.lastname: Donnelly
authors.forename: C T
authors.initials: CT
authors.lastname: Basson
authors.forename: H C
authors.initials: HC
authors.lastname: Watkins
authors.forename: R
authors.initials: R
authors.lastname: Anan
authors.forename: L H
authors.initials: LH
authors.lastname: Thierfelder
authors.forename: K
authors.initials: K
authors.lastname: McGarry
authors.forename: E
authors.initials: E
authors.lastname: Rowland
mesh_terms: D000293:Adolescent; D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications / Q000235:genetics*; D002648:Child; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011995:Recombination, Genetic; D014927:Wolff-Parkinson-White Syndrome / Q000150:complications / Q000235:genetics*
chemical_list: D005819:Genetic Markers