Jung

in locus / reports

Linkage/Locus Report

 

Title: Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22.
Authors: Jung M, Poepping I, Perrot A, Ellmer A, Wienker T, Dietz R, Reis A, and Osterziel K.
Journal: Am J Hum Genet, 1999;65:1068-1077.
Mikrosatellitenzentrum, Max-Delbruck-Centrum, Berlin, Germany.
PubMed Link: 10486326
Citation Type: phenotype/genotype (clinical and genetic linkage data).
Study Design: family linkage study
Study Measurements:
Summary: 25 subjects from a German family underwent cardiovascular screening; they exhibited autosomal dominant conduction system disease in adolescence and progressed in some subjects in later years to dilated cardiomyopathy. Initial clinical manifestations were sinus or atrioventricular (AV) node dysfunction, manifested as bradycardia, tachycardia, or supraventricular tachycardia (SVT), with first, second or third degree AV block; bundle branch blocks were also identified. Left ventricular systolic dysfunction was minimal; however, malignant ventricular tachyarrhythmias occurred which led to implantation of implantable cardiac defibrillators (ICD’s) in 4 of 5 affected living subjects. Cardiac dilatation and systolic dysfunction occurred late in this family. A whole genome search revealed linkage on chromosome 2 (q14-22), in a 11 cM interval between markers D2S2224 and D2S112 with a peak lod score of 3.73 at D2S2339.
Comment:

 

Messina

in locus / reports

Linkage/Locus Report

 

Title: Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23.
Authors: Messina DN, Speer MC, Pericak-Vance MA, and McNally EM.
Journal: Am J Human Genet, 1997;61:909-917.
Department of Medicine, Committee on Genetics, University of Chicago, IL
PubMed Link: 9382102
Citation Type: phenotype/genotype (clinical and genetic data)
Study Design: family linkage study
Study Measurements:
Summary: A pedigree with conduction system disease and proximal, adult onset muscular dystrophy was reported with linkage to chromosome 6(q22-23). Elevated creatine kinases (CK’s) were variably observed with some affected subjects, but not all.  Minimal cardiac dilatation was present. Linkage was established with markers in the D6S262 and D6S1040 region with two point lod score of 4.99, which was mapped to a 3 cM region of chromosome 6q22-23.
Comment:

 

Krajinovic

in locus / reports

Linkage/Locus Report

 

Title: Linkage of familial dilated cardiomyopathy to chromosome 9.
Authors: Krajinovic M, Pinamonti B, Sinagra G, Vatta M, Severini GM, Milasin J, Falaschi A, Camerini F, Giacca M, and Mestroni L
Journal: Am J Hum Genet, 1995;57:846-852.
International Centre for Genetic Engineering and Biotechnology, Ospedale Maggiore, Trieste, Italy.
PubMed Link: 7573045
Citation Type: phenotype/genotype (clinical and genetic linkage data)
Study Design: family linkage study
Study Measurements: Study measurements:
Summary: In October, 1995 Luisa Mestroni and her group in Trieste reported a large Italian family with autosomal dominant FDC (and subsequently two smaller Italian families) identified clinically by left ventricular dimensions and function (20).  A diagnosis of dilated cardiomyopathy was made by the presence of both (1) an ejection fraction <0.45 by echocardiographic or radionuclide examination, and/or an M-mode echo fractional shortening less than 30%, and (2) a left ventricular end diastolic dimension (LVEDD) > 2.7 cm/m2, excluding any known cause of myocardial disease. Eighty family members were identified in 1987, and 13 were considered to be affected. Linkage was established for chromosome 9q13-q22 with a maximum multipoint lod score of 4.2, with the locus placed between D9S153 and D9S152.  The investigators observed concordance of genetic linkage data when retrospectively compared to data from subjects with a normal ejection fraction but enlarged left ventricular end-diastolic dimensions by echocardiography.
Comment: This was one of the earliest linkage reports of DCM from a carefully characterized kindred.

 

Bowles

in locus / reports

Linkage/Locus Report

 

Title: Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23.
Authors: Bowles KR, Gajarski R, Porter P, Goytia V, Bachinski L, Roberts R, Pignatelli R, and Towbin JA.
Journal: J Clin Invest, 1996;96:1355-1360.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas
PubMed Link: 8823300
Citation Type: phenotype/genotype (clinical and genetic data)
Study Design: family linkage study
Study Measurements:
Summary: 12 of 26 family members were affected with dilated cardiomyopathy consistent with autosomal dominant inheritance. Linkage was found to chromosome 10 (q21-q23). Eight of the 12 affected members demonstrated mitral valve prolapse and mitral regurgitation, a distinctive clinical marker. Linkage analysis provided a maximum lod score of 3.77 for the 10q21-q23 chromosomal region.
Comment: