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Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines

Fréderique Boeykens (UGent) , Marie Abitbol, Heidi Anderson, Tanushri Dargar, Paolo Ferrari, Philip R. Fox, Jessica J. Hayward, Jens Häggström, Stephen Davison, Mark D. Kittleson, et al.
(2024) FRONTIERS IN VETERINARY SCIENCE. 11.
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Abstract
Introduction The correct labeling of a genetic variant as pathogenic is important as breeding decisions based on incorrect DNA tests can lead to the unwarranted exclusion of animals, potentially compromising the long-term health of a population. In human medicine, the American college of Medical Genetics (ACMG) guidelines provide a framework for variant classification. This study aims to apply these guidelines to six genetic variants associated with hypertrophic cardiomyopathy (HCM) in certain cat breeds and to propose a modified criterion for variant classification. Methods Genetic samples were sourced from five cat breeds: Maine Coon, Sphynx, Ragdoll, Devon Rex, and British Short- and Longhair. Allele frequencies were determined, and in the subset with phenotypes available, odds ratios to determine the association with HCM were calculated. In silico evaluation followed with joint evidence and data from other publications assisting in the classification of each variant. Results Two variants, MYBPC3:c.91G > C [A31P] and MYBPC3:c.2453C > T [R818W], were designated as pathogenic. One variant, MYH7:c.5647G > A [E1883K], was found likely pathogenic, while the remaining three were labeled as variants of unknown significance. Discussion Routine genetic testing is advised solely for the MYBPC3:c.91G > C [A31P] in the Maine Coon and MYBPC3:c.2453C > T [R818W] in the Ragdoll breed. The human ACMG guidelines serve as a suitable foundational tool to ascertain which variants to include; however, refining them for application in veterinary medicine might be beneficial.
Keywords
General Veterinary, cardiac disease, feline genetics, variant classification, ACMG guidelines, genetic diversity, MYOSIN STORAGE MYOPATHY, ANIMAL-MODEL, MAINE COON, CATS, PREVALENCE, MUTATION, VALIDATION, R820W, A31P, A74T

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MLA
Boeykens, Fréderique, et al. “Classification of Feline Hypertrophic Cardiomyopathy-Associated Gene Variants According to the American College of Medical Genetics and Genomics Guidelines.” FRONTIERS IN VETERINARY SCIENCE, edited by Carlo Guglielmini, vol. 11, Frontiers Media SA, 2024, doi:10.3389/fvets.2024.1327081.
APA
Boeykens, F., Abitbol, M., Anderson, H., Dargar, T., Ferrari, P., Fox, P. R., … Broeckx, B. (2024). Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines. FRONTIERS IN VETERINARY SCIENCE, 11. https://doi.org/10.3389/fvets.2024.1327081
Chicago author-date
Boeykens, Fréderique, Marie Abitbol, Heidi Anderson, Tanushri Dargar, Paolo Ferrari, Philip R. Fox, Jessica J. Hayward, et al. 2024. “Classification of Feline Hypertrophic Cardiomyopathy-Associated Gene Variants According to the American College of Medical Genetics and Genomics Guidelines.” Edited by Carlo Guglielmini. FRONTIERS IN VETERINARY SCIENCE 11. https://doi.org/10.3389/fvets.2024.1327081.
Chicago author-date (all authors)
Boeykens, Fréderique, Marie Abitbol, Heidi Anderson, Tanushri Dargar, Paolo Ferrari, Philip R. Fox, Jessica J. Hayward, Jens Häggström, Stephen Davison, Mark D. Kittleson, Frank van Steenbeek, Ingrid Ljungvall, Leslie A. Lyons, Maria Longeri, Åsa Ohlsson, Luc Peelman, Caroline Dufaure de Citres, Pascale Smets, Maria Elena Turba, and Bart Broeckx. 2024. “Classification of Feline Hypertrophic Cardiomyopathy-Associated Gene Variants According to the American College of Medical Genetics and Genomics Guidelines.” Ed by. Carlo Guglielmini. FRONTIERS IN VETERINARY SCIENCE 11. doi:10.3389/fvets.2024.1327081.
Vancouver
1.
Boeykens F, Abitbol M, Anderson H, Dargar T, Ferrari P, Fox PR, et al. Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines. Guglielmini C, editor. FRONTIERS IN VETERINARY SCIENCE. 2024;11.
IEEE
[1]
F. Boeykens et al., “Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines,” FRONTIERS IN VETERINARY SCIENCE, vol. 11, 2024.
@article{01HNWNG7X23RT7AF62108E8QM5,
  abstract     = {{
Introduction The correct labeling of a genetic variant as pathogenic is important as breeding decisions based on incorrect DNA tests can lead to the unwarranted exclusion of animals, potentially compromising the long-term health of a population. In human medicine, the American college of Medical Genetics (ACMG) guidelines provide a framework for variant classification. This study aims to apply these guidelines to six genetic variants associated with hypertrophic cardiomyopathy (HCM) in certain cat breeds and to propose a modified criterion for variant classification. Methods Genetic samples were sourced from five cat breeds: Maine Coon, Sphynx, Ragdoll, Devon Rex, and British Short- and Longhair. Allele frequencies were determined, and in the subset with phenotypes available, odds ratios to determine the association with HCM were calculated. In silico evaluation followed with joint evidence and data from other publications assisting in the classification of each variant. Results Two variants, MYBPC3:c.91G > C [A31P] and MYBPC3:c.2453C > T [R818W], were designated as pathogenic. One variant, MYH7:c.5647G > A [E1883K], was found likely pathogenic, while the remaining three were labeled as variants of unknown significance. Discussion Routine genetic testing is advised solely for the MYBPC3:c.91G > C [A31P] in the Maine Coon and MYBPC3:c.2453C > T [R818W] in the Ragdoll breed. The human ACMG guidelines serve as a suitable foundational tool to ascertain which variants to include; however, refining them for application in veterinary medicine might be beneficial.}},
  author       = {{Boeykens, Fréderique and Abitbol, Marie and Anderson, Heidi and Dargar, Tanushri and Ferrari, Paolo and Fox, Philip R. and Hayward, Jessica J. and Häggström, Jens and Davison, Stephen and Kittleson, Mark D. and van Steenbeek, Frank and Ljungvall, Ingrid and Lyons, Leslie A. and Longeri, Maria and Ohlsson, Åsa and Peelman, Luc and Dufaure de Citres, Caroline and Smets, Pascale and Turba, Maria Elena and Broeckx, Bart}},
  editor       = {{Guglielmini, Carlo}},
  issn         = {{2297-1769}},
  journal      = {{FRONTIERS IN VETERINARY SCIENCE}},
  keywords     = {{General Veterinary,cardiac disease,feline genetics,variant classification,ACMG guidelines,genetic diversity,MYOSIN STORAGE MYOPATHY,ANIMAL-MODEL,MAINE COON,CATS,PREVALENCE,MUTATION,VALIDATION,R820W,A31P,A74T}},
  language     = {{eng}},
  pages        = {{15}},
  publisher    = {{Frontiers Media SA}},
  title        = {{Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines}},
  url          = {{http://doi.org/10.3389/fvets.2024.1327081}},
  volume       = {{11}},
  year         = {{2024}},
}
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