Details

Autor(en) / Beteiligte

• Kass, Susan
• MacRae, Calum
• Graber, Harry L
• Sparks, Elizabeth A
• McNamara, Dennis
• Boudoulas, Harisios
• Basson, Craig T
• Baker, Peter B
• Cody, Robert J
• Fishman, Mark C
• Cox, Nancy
• Kong, Augustine
• Wooley, Charles F
• Seidman, J.G
• Seidman, Christine E

Titel

A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1

Ist Teil von

• Nature genetics, 1994-08, Vol.7 (4), p.546-551

Ort / Verlag

London: Nature Publishing Group

Erscheinungsjahr

1994

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.