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: |