Absence of known feline MYH7 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy.
HCM
cardiomyopathy
feline
genetic
mutation
Journal
Animal genetics
ISSN: 1365-2052
Titre abrégé: Anim Genet
Pays: England
ID NLM: 8605704
Informations de publication
Date de publication:
Aug 2021
Aug 2021
Historique:
accepted:
25
04
2021
pubmed:
11
5
2021
medline:
2
9
2021
entrez:
10
5
2021
Statut:
ppublish
Résumé
Hypertrophic cardiomyopathy (HCM) is the most common cause of heart disease in the domestic cat with a genetic predisposition in a few breeds. In the Maine Coon and Ragdoll breeds, two variants associated with the HCM phenotype have been identified in the cardiac myosin binding protein C gene (MYBPC3; p.Ala31Pro and p.Arg820Trp respectively), and a single variant has been identified in the myosin heavy chain gene (MYH7; p.Glu1883Lys) in one domestic cat with HCM. It is not known if these variants influence the development of HCM in other cohorts of the feline population. The objective of this study was to evaluate 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. Further studies to identify the causative variants for the feline HCM population are warranted.
Substances chimiques
Carrier Proteins
0
Myosin Heavy Chains
EC 3.6.4.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
542-544Subventions
Organisme : Morris Animal Foundation
ID : D15FE-009
Informations de copyright
© 2021 Stichting International Foundation for Animal Genetics.
Références
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 23, 893-6.
Gil-Ortuno C., Sebastian-Marcos P., Sabater-Molina M., Nicolas-Rocamora E., Gimeno-Blanes J.R. & Fernandez del Palacio M.J. (2020) Genetics of feline hypertrophic cardiomyopathy. Clinical Genetics 98, 203-14.
Granstrom S., Godiksen M.T.N., Christiansen M., Pipper C.B., Willesen J.L. & Koch J. (2011) Prevalence of hypertrophic cardiomyopathy in a cohort of British shorthair cats in Denmark. Journal of Veterinary Internal Medicine 25, 866-71.
Haagstrom J., Luis F.V. & Wess G. (2015) Screening for hypertrophic cardiomyopathy in cats. Journal of Veterinary Cardiology 17, S134-9.
Kraus M.S., Calvert C.A. & Jacobs G.J. (1999) Hypertrophic cardiomyopathy in a litter of five mixed-breed cats. Journal of the American Animal Hospital Association 35, 293-6.
Longeri M., Ferrari P., Knafelz P. et al. (2013) Myosin-binding protein C DNA variants in domestic cats (A31P, A74T, R820W) and their association with hypertrophic cardiomyopathy. Journal of Veterinary Internal Medicine 27, 275-85.
Mary J., Chetboul V., Sampedrano C.C., Abitbol M., Gouni V., Trehiou-Sechi E., Tissier R., Queney G., Pouchelon J.-L. & Thomas A. (2010) Prevalence of the MYBPC3-A31P mutation in a large European feline population and association with hypertrophic cardiomyopathy in the Maine Coon breed. Journal of Veterinary Cardiology 12, 155-61.
März I., Wilkie L.J., Harrington N., Payne J.R., Muzzi R.A.L., Häggström J., Smith K. & Luis F.V. (2015) Familial cardiomyopathy in Norwegian Forest cats. Journal of Feline Medicine and Surgery 17, 681-91.
Meurs K.M., Norgard M.M., Ederer M.M., Hendrix K.P. & Kittleson M. (2007) A substitution mutation in the myosin binding protein C gene in ragdoll hypertrophic cardiomyopathy. Genomics 90, 261-4.
Meurs K.M., Norgard M.M., Kuan M., Haggstrom J. & Kittleson M. (2009) Analysis of 8 sarcomeric candidate genes for feline hypertrophic cardiomyopathy mutations in cats with hypertrophic cardiomyopathy. Journal of Veterinary Internal Medicine 23, 840-3.
Meurs K.M., Sanchez X., David R.M. et al. (2005) A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy. Human Molecular Genetics 14, 3587-93.
Meurs K.M., William B.G., DeProsperp D., Friedenberg S.G., Malarkey D.E., Ezzell J.A., Keene B.W., Adin D.B., DeFrancesco T.C. & Tou S.P. (2021) A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat. Orphanet Journal of Rare Diseases 16, 108.
Payne J.R., Brodbelt D.C. & Luis Fuentes V. (2015) Cardiomyopathy prevalence in 780 apparently healthy cats in rehoming centres (the CatScan study). Journal of Veterinary Cardiology 17, S244-57.
Schipper T., Van Poucke M., Sonck L., Smets P., Ducatelle R., Broeckx B.J.G. & Peelman L.J. (2019) A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat. European Journal of Human Genetics 27, 1724-30.
Trehiou-Sechi E., Tissier R., Gouni V., Misbach C., Petit A.M., Balouka D., Sampedrano C.C., Castaignet M., Pouchelon J.L. & Chetboul V. (2012) Comparative echocardiographic and clinical features of hypertrophic cardiomyopathy in 5 breeds of cats: a retrospective analysis of 344 cases (2001-2011). Journal of Veterinary Internal Medicine 26, 532-41.