OMIA 002212-9685 : Cardiomyopathy, hypertrophic, MYH7-related in Felis catus

In other species: rabbit

Possibly relevant human trait(s) and/or gene(s) (MIM number): 192600

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_018728.3 (76187655..76165299) MYH7 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Domestic Shorthair Cardiomyopathy, hypertrophic, MYH7-related MYH7 missense c.5647G>A p.(Glu1883Lys) NM_000257.3:c.5647G>A (p.(Glu1883Lys)) 2019 31164718

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 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 :, 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 :, 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 :, 2019. Pubmed reference: 31164718. DOI: 10.1038/s41431-019-0431-4.

Edit History


  • Created by Frank Nicholas on 23 Sep 2019
  • Changed by Frank Nicholas on 23 Sep 2019
  • Changed by Imke Tammen2 on 17 Jun 2021