OMIA:002951-9685 : Cardiomyopathy, hypertrophic, MYBPC3-related, autosomal dominant in Felis catus (domestic cat) |
Categories: Cardiovascular system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 600958 (gene) , 615396 (trait) , 115197 (trait)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal dominant
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2007
Cross-species summary: Increase in volume of the muscle tissue of the heart, due to an increase in the size of muscle cells, primarily in the left ventricle and ventricular septum due to dominant variants in the MYBPC3 gene
Species-specific name: Feline familial HCM
Species-specific symbol: HCM
Species-specific description:
Information listed here was previously listed under 'OMIA:000515-9685 : Cardiomyopathy, hypertrophic', an entry that now describes generic information about HCM. See also 'OMIA:002952-9685 : Cardiomyopathy, hypertrophic, MYBPC3-related, autosomal recessive' for recessive [30/04/2025].
The original entry was edited by Meg Sleeper, VMD and Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT and has been updated.
Molecular basis: HCM is genetically heterogeneous in the overall cat population. By sequencing a very likely comparative candidate gene (based on the homologous human disorder), Meurs et al. (2005) identified the causative mutation in Maine Coon cats as a G to C substitution in exon 3, codon 31 of MYBPC3 (omia.variant:901, see 'OMIA:002952-9685 : Cardiomyopathy, hypertrophic, MYBPC3-related, autosomal recessive'). This changes a conserved amino acid (alanine to proline; A31P), which most likely changes protein conformation. The exact role of this myosin binding protein C, cardiac is still unknown, though it may bind myosin or actin, or interact with other cardiac proteins that form sarcomeres (Meurs et al., 2005). Meurs et al. (2007) identified the causative mutation in Ragdoll cats as a C to T substitution in the same gene (MYBPC3), which changes the amino acid from arginine to tryptophan (R820W, omia.variant:902). As a result, the secondary structure of the myosin binding protein is changed, affecting sarcomere function. Wess et al. (2010) proposed that a third mutation A74T is causative in Maine Coons, but the explanations by Kittleson et al. (2010) and the extensive data of Longeri et al. (2013) have, in essence, disproved this claim. Boeykens et al. (2024) classified the variant MYBPC3:c.2453C>T [R818W] as a pathogenic variant using American College of Medical Genetics and Genomics guidelines.
Breeds:
American Bobtail (Cat) (VBO_0100003),
American Bobtail Shorthair (Cat) (VBO_0100005),
Highlander (Cat) (VBO_0100114),
Munchkin (Cat) (VBO_0100169),
Ragamuffin (Cat) (VBO_0100195),
Ragdoll (Cat) (VBO_0100196).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).
Associated gene:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
MYBPC3 | myosin binding protein C3 | Felis catus | D1 | NC_058377.1 (99281577..99264238) | MYBPC3 | Homologene, Ensembl , NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
902 | American Bobtail (Cat) American Bobtail Shorthair (Cat) Highlander (Cat) Munchkin (Cat) Ragamuffin (Cat) Ragdoll (Cat) | Cardiomyopathy, hypertrophic | MYBPC3 | missense | Naturally occurring variant | Felis_catus_9.0 | D1 | g.101329646G>A | c.2453C>T | p.(R818W) | XM_019812397.1; XP_019667956.1; published as p.(R820W); coordinates in the table have been updated to a recent reference genome and / or transcript | 2007 | 17521870 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. Additional breeds reported based on PMID:35709088. |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002951-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2024 | Ali, S.A., Perera, G., Laird, J., Batorsky, R., Maron, M.S., Rivas, V.N., Stern, J.A., Harris, S., Chin, M.T. : |
Single cell transcriptomic profiling of MYBPC3-associated hypertrophic cardiomyopathy across species reveals conservation of biological process but not gene expression. J Am Heart Assoc 14:e035780, 2024. Pubmed reference: 39719426. DOI: 10.1161/JAHA.124.035780. | |
Boeykens, F., Abitbol, M., Anderson, H., Dargar, T., Ferrari, P., Fox, P.R., Hayward, J.J., Häggström, J., Davison, S., Kittleson, M.D., van Steenbeek, F., Ljungvall, I., Lyons, L.A., Longeri, M., Ohlsson, Å., Peelman, L., Dufaure de Citres, C., Smets, P., Turba, M.E., Broeckx, B.J.G. : | |
Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines. Front Vet Sci 11:1327081, 2024. Pubmed reference: 38371598. DOI: 10.3389/fvets.2024.1327081. | |
Boeykens, F., Abitbol, M., Anderson, H., Dargar, T., Ferrari, P., Fox, P.R., Hayward, J.J., Häggström, J., Davison, S., Kittleson, M.D., van Steenbeek, F., Ljungvall, I., Lyons, L.A., Longeri, M., Ohlsson, Å., Peelman, L., Dufaure de Citres, C., Smets, P., Turba, M.E., Broeckx, B.J.G. : | |
Corrigendum: Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines. Front Vet Sci 11:1458433, 2024. Pubmed reference: 39188901. DOI: 10.3389/fvets.2024.1458433. | |
Dutton, L.C., Dudhia, J., Guest, D.J., Connolly, D.J. : | |
CRISPR/Cas9 gene editing in induced pluripotent stem cells to investigate the feline hypertrophic cardiomyopathy causing MYBPC3/R820W mutation. PLoS One 19:e0311761, 2024. Pubmed reference: 39388496. DOI: 10.1371/journal.pone.0311761. | |
2023 | Akiyama, N., Suzuki, R., Saito, T., Yuchi, Y., Ukawa, H., Matsumoto, Y. : |
Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan. PLoS One 18:e0283433, 2023. Pubmed reference: 37071642. DOI: 10.1371/journal.pone.0283433. | |
2022 | Anderson, H., Davison, S., Lytle, K.M., Honkanen, L., Freyer, J., Mathlin, J., Kyöstilä, K., Inman, L., Louviere, A., Chodroff Foran, R., Forman, O.P., Lohi, H., Donner, J. : |
Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats. PLoS Genet 18:e1009804, 2022. Pubmed reference: 35709088. DOI: 10.1371/journal.pgen.1009804. | |
2015 | Borgeat, K., Stern, J., Meurs, K.M., Fuentes, V.L., Connolly, D.J. : |
The influence of clinical and genetic factors on left ventricular wall thickness in Ragdoll cats. J Vet Cardiol 17 Suppl 1:S258-67, 2015. Pubmed reference: 26776584. DOI: 10.1016/j.jvc.2015.06.005. | |
2014 | Borgeat, K., Casamian-Sorrosal, D., Helps, C., Luis Fuentes, V., Connolly, D.J. : |
Association of the myosin binding protein C3 mutation (MYBPC3 R820W) with cardiac death in a survey of 236 Ragdoll cats. J Vet Cardiol 16:73-80, 2014. Pubmed reference: 24906243. DOI: 10.1016/j.jvc.2014.03.005. | |
Casamian-Sorrosal, D., Chong, S.K., Fonfara, S., Helps, C. : | |
Prevalence and demographics of the MYBPC3-mutations in ragdolls and Maine coons in the British Isles. J Small Anim Pract 55:269-73, 2014. Pubmed reference: 24602043. DOI: 10.1111/jsap.12201. | |
2013 | Longeri, M., Ferrari, P., Knafelz, P., Mezzelani, A., Marabotti, A., Milanesi, L., Pertica, G., Polli, M., Brambilla, P.G., Kittleson, M., Lyons, L.A., Porciello, F. : |
Myosin-binding protein C DNA variants in domestic cats (A31P, A74T, R820W) and their association with hypertrophic cardiomyopathy. J Vet Intern Med 27:275-85, 2013. Pubmed reference: 23323744. DOI: 10.1111/jvim.12031. | |
2010 | Kittleson, MD., Meurs, K., Munro, M. : |
Re: Association of A31P and A74T polymorphisms in the myosin binding protein C3 gene and hypertrophic cardiomyopathy in Maine Coon and other breed cats. J Vet Intern Med 24:1242-3; author reply 1244, 2010. Pubmed reference: 21054533. DOI: 10.1111/j.1939-1676.2010.0614.x. | |
Ripoll Vera, T., Monserrat Iglesias, L., Hermida Prieto, M., Ortiz, M., Rodriguez Garcia, I., Govea Callizo, N., Gómez Navarro, C., Rosell Andreo, J., Gámez Martínez, J.M., Pons Lladó, G., Cremer Luengos, D., Torres Marqués, J. : | |
The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans. Int J Cardiol 145:405-7, 2010. Pubmed reference: 20542340. DOI: 10.1016/j.ijcard.2010.04.032. | |
Wess, G., Schinner, C., Weber, K., Küchenhoff, H., Hartmann, K. : | |
Association of A31P and A74T polymorphisms in the myosin binding protein C3 gene and hypertrophic cardiomyopathy in Maine Coon and other breed cats. J Vet Intern Med 24:527-32, 2010. Pubmed reference: 20412438. DOI: 10.1111/j.1939-1676.2010.0514.x. | |
2007 | Meurs, KM., Norgard, MM., Ederer, MM., Hendrix, KP., Kittleson, MD. : |
A substitution mutation in the myosin binding protein C gene in ragdoll hypertrophic cardiomyopathy. Genomics 90:261-4, 2007. Pubmed reference: 17521870. DOI: 10.1016/j.ygeno.2007.04.007. | |
2005 | Meurs, KM., Sanchez, X., David, RM., Bowles, NE., Towbin, JA., Reiser, PJ., Kittleson, JA., Munro, MJ., Dryburgh, K., Macdonald, KA., Kittleson, MD. : |
A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy. Hum Mol Genet 14:3587-93, 2005. Pubmed reference: 16236761. DOI: 10.1093/hmg/ddi386. |
Edit History
- Created by Imke Tammen2 on 30 Apr 2025
- Changed by Imke Tammen2 on 30 Apr 2025
- Changed by Imke Tammen2 on 01 May 2025