OMIA:002212-9685 : Cardiomyopathy, hypertrophic, MYH7-related in Felis catus |
In other species: pig , rabbit
Categories: Cardiovascular system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 192600 (trait) , 160760 (gene) , 613426 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2019
Molecular basis: Sequencing of comparative functional genes in an affected Domestic Shorthair cat enabled Schipper et al. (2019) to identify a likely causal variant, namely "MYH7 c.5647G>A (p.(Glu1883Lys))".
Prevalence: Schipper et al. (2019) reported that the c.5647G>A variant was absent from "125 [non-affected] Domestic Shorthairs and 25 cats each from the Ragdoll, Maine Coon and British Shorthair breeds".
O'Donnell et al. (2021) evaluated "the presence of the known MYBPC3 and MYH7 variants in a population of cats with HCM. DNA was isolated from samples collected from non-Ragdoll and non-Maine Coon domestic cats diagnosed with HCM through the North Carolina State University College of Veterinary Medicine and genotyped for the three variants. One-hundred and three DNA samples from cats with HCM were evaluated from domestic shorthair, domestic longhair and purebred cats. All samples were wt for the MYBPC3 and MYH7 variants. Although this study was limited by its inclusion of cats from one tertiary hospital, the lack of these MYBPC3 and MYH7 variants in this feline HCM population indicates that the clinical utility of genetic testing for these variants may be isolated to the two cat breeds in which these variants have been identified."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| MYH7 | myosin, heavy chain 7, cardiac muscle, beta | Felis catus | B3 | NC_058373.1 (73892875..73870474) | MYH7 | Homologene, Ensembl , NCBI gene |
Variants
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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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1121 | Domestic Shorthair | Cardiomyopathy, hypertrophic, MYH7-related | MYH7 | missense | Naturally occurring variant | Felis_catus_9.0 | B3 | g.76166296C>T | c.5647G>A | p.(E1883K) | XM_006932746.4; XP_006932808.1 | rs3166775194 | 2019 | 31164718 | Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley. |
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.
| 2021 | Kittleson, M.D., Côté, E. : |
| The feline cardiomyopathies: 1. General concepts. J Feline Med Surg 23:1009-1027, 2021. Pubmed reference: 34693806 . DOI: 10.1177/1098612X211021819. | |
| O'Donnell, K., Adin, D., Atkins, C.E., DeFrancesco, T., Keene, B.W., Tou, S., Meurs, K.M. : | |
| Absence of known feline MYH7 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy. Anim Genet 52:542-4, 2021. Pubmed reference: 33970514 . DOI: 10.1111/age.13074. | |
| 2020 | Gil-Ortuño, C., Sebastián-Marcos, P., Sabater-Molina, M., Nicolas-Rocamora, E., Gimeno-Blanes, J.R., Fernández Del Palacio, M.J. : |
| Genetics of feline hypertrophic cardiomyopathy. Clin Genet 98:203-14, 2020. Pubmed reference: 32215921 . DOI: 10.1111/cge.13743. | |
| 2019 | Schipper, T., Van Poucke, M., Sonck, L., Smets, P., Ducatelle, R., Broeckx, B.J.G., Peelman, L.J. : |
| A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat. Eur J Hum Genet 27:1724-1730, 2019. Pubmed reference: 31164718 . DOI: 10.1038/s41431-019-0431-4. |
Edit History
- Changed by Frank Nicholas on 23 Sep 2019
- Created by Frank Nicholas on 23 Sep 2019
- Changed by Imke Tammen2 on 17 Jun 2021