A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1.
Longitudinal evaluation of a seven generation kindred with an inherited conduction system defect and dilated cardiomyopathy demonstrated autosomal dominant transmission of a progressive disorder that both perturbs atrioventricular conduction and depresses cardiac contractility. To elucidate the molecular genetic basis for this disorder, a genome-wide linkage analysis was performed. Polymorphic loci near the centromere of chromosome 1 demonstrated linkage to the disease locus (maximum multipoint lod score = 13.2 in the interval between D1S305 and D1S176). Based on the disease phenotype and map location we speculate that gap junction protein connexin 40 is a candidate for mutations that result in conduction system disease and dilated cardiomyopathy.
Kass
S
S
Department of Genetics, Harvard Medical School, Boston, Massachussetts 02115.
MacRae
C
C
Graber
H L
HL
Sparks
E A
EA
McNamara
D
D
Boudoulas
H
H
Basson
C T
CT
Baker
P B
PB
Cody
R J
RJ
Fishman
M C
MC
D000328:Adult; D000368:Aged; D001145:Arrhythmias, Cardiac / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002311:Cardiomyopathy, Dilated / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002878:Chromosomes, Human, Pair 1; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree
D005819:Genetic Markers