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

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".

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

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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.

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

Reference


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