Prevalence and demographics of the <scp>MYBPC3</scp>‐mutations in ragdolls and Maine coons in the British Isles

Casamian‐Sorrosal, Domingo; Chong, Siew-Le; Fonfara, Sonja; Helps, Christopher R

doi:10.1111/jsap.12201

Cited by 9 publications

(9 citation statements)

References 10 publications

(30 reference statements)

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“…Other articles report that only Ragdoll cats, both affected and healthy, have been found to be carriers of this variant through fragment sequencing (up to 1855 cats from 28 different breeds including affected and control cats) 21,29,61 . p.R820W mutation prevalence in Ragdolls has been reported in localized studies, with values between 17% in Italy, 23% in the United States of America 21 and 27% in the British Isles 67 …”

Section: Genetic Studies In Catsmentioning

confidence: 99%

Genetics of feline hypertrophic cardiomyopathy

et al. 2020

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Hypertrophic cardiomyopathy (HCM) is characterized by an abnormal increase in myocardial mass that affects cardiac structure and function. HCM is the most common inherited cardiovascular disease in humans (0.2%) and the most common cardiovascular disease in cats (14.7%). Feline HCM phenotype is very similar to the phenotype found in humans, but the time frame for the development of the disease is significantly shorter. Similar therapeutic agents are used in its treatment and it has the same complications, such as heart failure, thromboembolism and sudden cardiac death. In contrast to humans, in whom thousands of genetic variants have been identified, genetic studies in cats have been limited to fragment analysis of two sarcomeric genes identifying two variants in MYBPC3 and one in MYH7. Two of these variants have also been associated with human disease. The high prevalence of the reported variants in non‐affected cats hinders the assumption of their pathogenicity in heterozygotes. An in‐depth review of the literature about genetic studies on feline HCM in comparison with the same disease in humans is presented here. The close similarity in the phenotype and genotype between cats and humans makes the cat an excellent model for the pathophysiological study of the disease and future therapeutic agents.

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Section: Genetic Studies In Catsmentioning

confidence: 99%

Genetics of feline hypertrophic cardiomyopathy

et al. 2020

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“…In a study on eight DNA tests for canine recessive diseases, each test led to a decline in the number of affected dogs as well as a decline in the frequency of the causative allele, illustrating the effectiveness of genotypical selection (Lewis and Mellersh, 2019). Casamian-Sorrosal et al (2014) found significantly fewer Maine Coons homozygous for the MYBPC3 c.91G>C variant than expected under Hardy-Weinberg equilibrium, but it is not known whether this was the result of selective breeding.…”

Section: Future Perspectivesmentioning

confidence: 99%

An overview of the current genetic and phenotypical selection strategies to reduce the prevalence of feline hypertrophic cardiomyopathy

Schipper¹,

Peelman²,

Smets³

et al. 2020

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Hypertrophic cardiomyopathy (HCM) is a common and potentially lethal heart disease in cats. To reduce its prevalence, breeding cats are frequently screened on the basis of their phenotype or genotype. Although echocardiography is the most reliable phenotypical method, its efficacy is limited by the incomplete penetrance of HCM and by difficulties in distinguishing primary HCM from other causes of left ventricular hypertrophy. On the other hand, genetic testing is hampered by the genetic heterogeneity of the disease. Genetic tests are currently only available for Maine Coons and Ragdolls. Because of the high prevalence of HCM, stringent selection may have a negative impact on the genetic diversity of a breed. A more optimal selection would therefore be a slow and careful exclusion of phenotypically and/or genetically positive cats.

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“…, Casamian‐Sorrosal et al . ). In Maine coon cats, mutation carriers (G+) have a greater likelihood of developing HCM than non‐mutation carriers (Longeri et al .…”

Section: Introductionmentioning

confidence: 97%