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. 2022 Aug;53(4):526-529.
doi: 10.1111/age.13223. Epub 2022 May 30.

The TNNT2:c.95-108G>A variant is common in Maine Coons and shows no association with hypertrophic cardiomyopathy

Tom Schipper  1 , Åsa Ohlsson  2 , Maria Longeri  3 , Jessica J Hayward  4 , Lara Mouttham  5 , Paolo Ferrari  6 , Pascale Smets  7 , Ingrid Ljungvall  8 , Jens Häggström  8 , Joshua A Stern  9 , Leslie A Lyons  10 , Luc J Peelman  1 , Bart J G Broeckx  1
Affiliations

The TNNT2:c.95-108G>A variant is common in Maine Coons and shows no association with hypertrophic cardiomyopathy

Tom Schipper et al. Anim Genet. 2022 Aug.

Abstract

Hypertrophic cardiomyopathy (HCM) is a common and potentially fatal heart disease in many cat breeds. An intronic variant in TNNT2, c.95-108G>A, was recently reported as the cause of HCM in the Maine Coon. The aim of this study was to determine this variant's allele frequency in different populations and its possible association with HCM. Based on 160 Maine Coon samples collected in Belgium, Italy, Sweden and the USA, the variant's allele frequency was estimated to be 0.32. Analysis of the 99 Lives feline whole genome sequencing database showed that the TNNT2 variant also occurs in other breeds, as well as mixed-breed cats. Comparison of 31 affected and 58 healthy cats did not reveal significantly increased odds for HCM in homozygotes. Based on the combined evidence and in agreement with the standards and guidelines for the interpretation of sequence variants, this variant is currently classified as a variant of unknown significance and should not be used for breeding decisions regarding HCM.

Keywords: Felis catus; allele frequency; hypertrophic cardiomyopathy; intronic variant; troponin.

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References

REFERENCES

    1. Broeckx, B.J.G., Peelman, L., Saunders, J.H., Deforce, D. & Clement, L. (2017) Using variant databases for variant prioritization and to detect erroneous genotype-phenotype associations. BMC Bioinformatics, 18, 535.
    1. Egenvall, A., Nødtvedt, A., Häggström, J., Ström Holst, B., Möller, L. & Bonnett, B.N. (2009) Mortality of life-insured Swedish cats during 1999-2006: age, breed, sex, and diagnosis. Journal of Veterinary Internal Medicine, 23, 1175-1183.
    1. Fox, P.R., Keene, B.W., Lamb, K., Schober, K.A., Chetboul, V., Luis Fuentes, V. et al. (2018) International collaborative study to assess cardiovascular risk and evaluate long-term health in cats with preclinical hypertrophic cardiomyopathy and apparently healthy cats: the REVEAL study. Journal of Veterinary Internal Medicine, 32, 930-943.
    1. Fries, R., Heaney, A.M. & Meurs, K.M. (2008) Prevalence of the myosin-binding protein C mutation in Maine coon cats. Journal of Veterinary Internal Medicine, 22, 893-896.
    1. Kittleson, M.D. & Côté, E. (2021) The feline cardiomyopathies: 2. Hypertrophic cardiomyopathy. Journal of Feline Medicine and Surgery, 23, 1028-1051.

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