DNA testing in familial hypertrophic cardiomyopathy: clinical and laboratory implications
- 1 October 1996
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 50 (4) , 169-175
- https://doi.org/10.1111/j.1399-0004.1996.tb02621.x
Abstract
Counselling and clinical assessment in familial hypertrophic cardiomyopathy (FHC) is difficult, particularly in the young, since echocardiographic and ECG changes may not be diagnostic and clinical severity can vary. From 1990, when the beta-cardiac myosin heavy chain gene was implicated in the aetiology of FHC, considerable information about the molecular genetics of this disorder has emerged. However, an important question facing health professionals is the practical significance of DNA testing in FHC. The present study describes a DNA-based approach to screening for five commonly reported mutations involving the beta-cardiac myosin heavy chain gene. Approximately 11% of randomly selected families had an abnormality detected.Keywords
This publication has 24 references indexed in Scilit:
- Cardiac myosin binding protein–C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathyNature Genetics, 1995
- A new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathyHuman Molecular Genetics, 1994
- Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations.Circulation, 1994
- Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.Journal of Clinical Investigation, 1994
- Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene.Journal of Clinical Investigation, 1993
- Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11Nature Genetics, 1993
- Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.Proceedings of the National Academy of Sciences, 1993
- Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation.Circulation, 1992
- A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutationPublished by Elsevier ,1990
- The current status of myocardial disarray in hypertrophic cardiomyopathy.Heart, 1984