Hypertrophic cardiomyopathy in young Maine Coon cats caused by the p.A31P cMyBP-C mutation - the clinical significance of having the mutation |
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| Authors: | Mia TN Godiksen Sara Granstrøm Jørgen Koch Michael Christiansen |
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| Institution: | 1.Department of Clinical Biochemistry and Immunology,Statens Serum Institut,Copenhagen,Denmark;2.Department of Small Animals Clinical Sciences, Faculty of Life Science,University of Copenhagen,Frederiksberg C,Denmark |
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| Abstract: | Background In Maine Coon (MC) cats the c.91G > C mutation in the gene MYBPC3, coding for cardiac myosin binding protein C (cMyBP-C), is associated with feline hypertrophic cardiomyopathy (fHCM). The
mutation causes a substitution of an alanine for a proline at residue 31 (p.A31P) of cMyBP-C. The pattern of inheritance has
been considered autosomal dominant based on a single pedigree. However, larger studies are needed to establish the significance
of cats being heterozygous or homozygous for the mutation with respect to echocardiographic indices and the probability of
developing fHCM. The objective of the present study was to establish the clinical significance of being homozygous or heterozygous
for the p.A31P cMyBP-C mutation in young to middle-aged cats. |
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