![](/images/graphics-bg.png)
A Novel Myosin Essential Light Chain Mutation Causes Hypertrophic Cardiomyopathy with Late Onset and Low Expressivity
Joint Authors
Hedley, Paula Louise
Elliott, Perry Mark
Moolman-Smook, Johanna Catharina
Page, Stephen P.
Andersen, Paal Skytt
Christiansen, Michael
Syrris, Petros
McKenna, William John
Source
Biochemistry Research International
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-04-11
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Hypertrophic cardiomyopathy (HCM) is caused by mutations in genes encoding sarcomere proteins.
Mutations in MYL3, encoding the essential light chain of myosin, are rare and have been associated with sudden death.
Both recessive and dominant patterns of inheritance have been suggested.
We studied a large family with a 38-year-old asymptomatic HCM-affected male referred because of a murmur.
The patient had HCM with left ventricular hypertrophy (max WT 21 mm), a resting left ventricular outflow gradient of 36 mm Hg, and left atrial dilation (54 mm).
Genotyping revealed heterozygosity for a novel missense mutation, p.V79I, in MYL3.
The mutation was not found in 300 controls, and the patient had no mutations in 10 sarcomere genes.
Cascade screening revealed a further nine heterozygote mutation carriers, three of whom had ECG and/or echocardiographic abnormalities but did not fulfil diagnostic criteria for HCM.
The penetrance, if we consider this borderline HCM the phenotype of the p.V79I mutation, was 40%, but the mean age of the nonpenetrant mutation carriers is 15, while the mean age of the penetrant mutation carriers is 47.
The mutation affects a conserved valine replacing it with a larger isoleucine residue in the region of contact between the light chain and the myosin lever arm.
In conclusion, MYL3 mutations can present with low expressivity and late onset.
American Psychological Association (APA)
Andersen, Paal Skytt& Hedley, Paula Louise& Page, Stephen P.& Syrris, Petros& Moolman-Smook, Johanna Catharina& McKenna, William John…[et al.]. 2012. A Novel Myosin Essential Light Chain Mutation Causes Hypertrophic Cardiomyopathy with Late Onset and Low Expressivity. Biochemistry Research International،Vol. 2012, no. 2012, pp.1-6.
https://search.emarefa.net/detail/BIM-490421
Modern Language Association (MLA)
Andersen, Paal Skytt…[et al.]. A Novel Myosin Essential Light Chain Mutation Causes Hypertrophic Cardiomyopathy with Late Onset and Low Expressivity. Biochemistry Research International No. 2012 (2012), pp.1-6.
https://search.emarefa.net/detail/BIM-490421
American Medical Association (AMA)
Andersen, Paal Skytt& Hedley, Paula Louise& Page, Stephen P.& Syrris, Petros& Moolman-Smook, Johanna Catharina& McKenna, William John…[et al.]. A Novel Myosin Essential Light Chain Mutation Causes Hypertrophic Cardiomyopathy with Late Onset and Low Expressivity. Biochemistry Research International. 2012. Vol. 2012, no. 2012, pp.1-6.
https://search.emarefa.net/detail/BIM-490421
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-490421