Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations

Mutations in α-tropomyosin (TPM1), 5 troponin T (TNNT2), 5 6 troponin I (TNNI3), 6 cardiac α-actin (ACTC), 7 titin (TTN), 8 and the essential (MYL3) and the regulatory (MYL2) myosin light chain genes have also been associated with FHC. 9 This pronounced genetic heterogeneity may be the principal c...

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Bibliographic Details
Published in:Journal of medical genetics 2001-12, Vol.38 (12), p.e43-43
Main Authors: Andersen, Paal Skytt, Havndrup, Ole, Bundgaard, Henning, Moolman-Smook, Johanna Catharina, Larsen, Lars Allan, Mogensen, Jens, Brink, Paul Andries, Børglum, Anders Dupont, Corfield, Valerie Ann, Kjeldsen, Keld, Vuust, Jens, Christiansen, Michael
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Cardiomyopathy
Cardiomyopathy, Hypertrophic - epidemiology
Cardiomyopathy, Hypertrophic - genetics
Cardiomyopathy, Hypertrophic - physiopathology
Deoxyribonucleic acid
DNA
DNA Mutational Analysis
Echocardiography
Electronic Letter
Exons - genetics
Female
Gene Frequency - genetics
Genotype & phenotype
Humans
Investigations
Light
Male
Medical prognosis
Middle Aged
Mutation
Mutation - genetics
Mutation, Missense - genetics
Myosin Light Chains - genetics
Netherlands - epidemiology
Pedigree
Phenotype
Polymorphism, Single-Stranded Conformational
Proteins
Regulation
South Africa - epidemiology
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Summary:Mutations in α-tropomyosin (TPM1), 5 troponin T (TNNT2), 5 6 troponin I (TNNI3), 6 cardiac α-actin (ACTC), 7 titin (TTN), 8 and the essential (MYL3) and the regulatory (MYL2) myosin light chain genes have also been associated with FHC. 9 This pronounced genetic heterogeneity may be the principal cause of the phenotypic variability that is seen in FHC. [...]mutations inTNNT2 seem to be associated with sudden death at a young age, 10 11 whereas families with mutations in MYBPC3 are generally characterised by progressive hypertrophy and a late onset of clinical manifestation. 12 13 Furthermore, it has been proposed that a certain rare form of hypertrophic cardiomyopathy (HCM), asymmetric septal hypertrophy predominantly confined to the midventricular region, known as the midventricular hypertrophy (MVH) phenotype, may be associated with mutations in the two myosin light chain genes. 9 However, limited and contradictory clinical information is available on FHC caused by mutations in these genes. 9 14 We have studied MYL2 andMYL3 in 68 consecutively collected FHC families from Denmark and in 130 probands from South Africa. Interestingly, it has been speculated that the N-terminal region of myosin binding protein C may contribute to the regulation of muscle contractility, possibly in concert with the myosin regulatory light chain. 25 In this region ofMYBPC3, one other missense mutation has previously been identified (Glu258Lys); however, this mutation has not been reported to be associated with the MVH phenotype.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.38.12.e43