Genetics of feline hypertrophic cardiomyopathy

Ortuño, Cristina Gil; Sebastián-Marcos, Patricia; Sabater-Molina, María; Nicolas-Rocamora, Elisa; Gimeno-Blanes, Juan Ramón; Palacio, María Josefa Fernández del

doi:10.1111/cge.13743

Cited by 15 publications

(15 citation statements)

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“…None of the non-Ragdoll and non-Maine Coon cats with HCM tested positive for the MYBPC3 p.Ala31Pro, p.Arg820Trp or MYH7 p.Glu1883Lys variants. This suggests that the MYBPC3 variants are unique to the Ragdoll and Maine Coon purebred populations that they were originally reported in and are largely breed-specific variants (Meurs et al 2005;Meurs et al 2007;Gil-Ortuno et al 2020). The MYH7 Glu1883Lys variant was initially reported in a domestic shorthair cat but was not identified in any of the domestic shorthair cats evaluated here.…”

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confidence: 69%

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Absence of known feline MYH7 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy

et al. 2021

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Summary 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.

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confidence: 69%

“…2007; Gil‐Ortuno et al . 2020). The MYH7 Glu1883Lys variant was initially reported in a domestic shorthair cat but was not identified in any of the domestic shorthair cats evaluated here.…”

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confidence: 99%

Absence of known feline MYH7 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy

et al. 2021

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“…HCM is the most common cardiac disease in cats, affecting around 15% of the feline population ( 63 , 64 ). Similarly to humans, familial HCM has been described in purebred cats, and in Maine coon and Ragdolls is caused by mutations in myosin binding protein C gene (MYBPC3) ( 65 ).…”

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confidence: 99%

Complex Feline Disease Mapping Using a Dense Genotyping Array

et al. 2022

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The current feline genotyping array of 63 k single nucleotide polymorphisms has proven its utility for mapping within breeds, and its use has led to the identification of variants associated with Mendelian traits in purebred cats. However, compared to single gene disorders, association studies of complex diseases, especially with the inclusion of random bred cats with relatively low linkage disequilibrium, require a denser genotyping array and an increased sample size to provide statistically significant associations. Here, we undertook a multi-breed study of 1,122 cats, most of which were admitted and phenotyped for nine common complex feline diseases at the Cornell University Hospital for Animals. Using a proprietary 340 k single nucleotide polymorphism mapping array, we identified significant genome-wide associations with hyperthyroidism, diabetes mellitus, and eosinophilic keratoconjunctivitis. These results provide genomic locations for variant discovery and candidate gene screening for these important complex feline diseases, which are relevant not only to feline health, but also to the development of disease models for comparative studies.

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“…HCM is the most common cardiac disease in cats, affecting around 15% of the feline population [51,52]. Similarly to humans, familial HCM has been described in purebred cats, and in Maine coon and Ragdolls is caused by mutations in myosin binding protein C gene (MYBPC3) [53].…”

Section: Methodsmentioning

confidence: 99%

Complex feline disease mapping using a dense genotyping array

Hernández

Hayward

Brockman

et al. 2021

Preprint

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The current feline genotyping array of 63k single nucleotide polymorphisms has proven its utility within breeds, and its use has led to the identification of variants associated with Mendelian traits in purebred cats. However, compared to single gene disorders, association studies of complex diseases, especially with the inclusion of random bred cats with relatively low linkage disequilibrium, require a denser genotyping array and an increased sample size to provide statistically significant associations. Here, we undertook a multi-breed study of 1,122 cats, most of which were admitted and phenotyped for nine common complex feline diseases at the Cornell University Hospital for Animals. Using a proprietary 340k single nucleotide polymorphism mapping array, we identified significant genome-wide associations with hyperthyroidism, diabetes mellitus, and eosinophilic keratoconjunctivitis. These results provide genomic locations for variant discovery and candidate gene screening for these important complex feline diseases, which are relevant not only to feline health, but also to the development of disease models for comparative studies.

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Genetics of feline hypertrophic cardiomyopathy

Cited by 15 publications

References 84 publications

Absence of known feline MYH7 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy

Absence of known feline MYH7 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy

Complex Feline Disease Mapping Using a Dense Genotyping Array

Complex feline disease mapping using a dense genotyping array

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