The MEF2A gene is excluded as a candidate in 3 families with cardiomyopathies that are not linked to myosin

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:134678

Bachinski, L L; Abchee, A ^[1]; Krahe, R ^[2]

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1. Baylor College of Medicine, Houston, TX (United States)
2. Dupont Institute, Wilmington, DE (United States); and others

Inherited cardiomyopathies, as exemplified by hypertrophic cardiomyopathy (HCM) and idiopathic dilated cardiomyopathy (DCM), are genetically heterogeneous disorders of the myocardium which serve as paradigms for the growth response of the heart to most stimuli. HCM is an autosomal dominant disease shown to be caused by at least 5 different genes, but {beta}-myosin heavy chain (MYH7) is the only one of these genes to be identified to date. No loci have as yet been identified for DCM. MEF2A is one of at least 4 known MEF2 genes which are members of the MADS box family of transcription factors. MEF2A is expressed in cardiac tissue; thus MEF2A is a logical candidate gene for these disorders of the cardiac growth response. We have investigated the possibility of linkage between a trinucleotide repeat polymorphism in the MEF2A gene and these cardiomyopathies is a DCM family and 2 HCM families not linked to MYH7. MEF2A was excluded as a candidate for DCM (LOD of -9.03) and HCM (LODs of-5.43 and -2.44) in these families. No expansion of this trinucleotide repeat was seen in 100 unrelated HCM probands or in the DCM family, which appears to exhibit anticipation.

• OSTI ID: 134678
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CARDIOVASCULAR DISEASES
DOMINANT MUTATIONS
GENES
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
MYOSIN
NUCLEOTIDES
PATIENTS
STATISTICS
TRANSCRIPTION FACTORS