Prevalence of the MYBPC3-A31P mutation in a large European feline population and association with hypertrophic cardiomyopathy in the Maine Coon breed.
OBJECTIVE
The MYBPC3-A31P mutation has been identified in the USA in a colony of Maine Coon cats with an autosomal dominant hypertrophic cardiomyopathy (HCM). The objectives of this prospective study were: 1) to evaluate the prevalence of this mutation in a large feline population from Europe; 2) to compare these data with the prevalence of HCM in the Maine Coon breed.


METHODS
1) 3757 cats from different breeds including 2744 Maine Coon cats were screened for the mutation. 2) 164/2744 Maine Coon cats were subjected to echocardiography (Echo-Group, mean age = 2.6 years [0.3-11.5]).


RESULTS
1) In the whole study population, the mutation was only found in Maine Coon cats (prevalence = 41.5%), except for one British Longhair cat. 2) 55/164 (34%) cats from the Echo-Group carried the mutation while only 12/164 (7%; 5/48 heterozygous, 5/7 homozygous mutated, 2/109 homozygous wild-type cats) showed HCM. MYBPC3-A31P was associated with a significant increased risk of HCM (relative risk = 9.91).


CONCLUSIONS
The MYBPC3-A31P mutation is highly prevalent in Maine Coon cats in Europe and appears to be breed specific with potential marginal events. Young unaffected mutated cats and affected homozygous wild-type cats illustrate the phenotypic and etiological heterogeneity of feline HCM, as demonstrated in humans.
ANTAGENE, Animal Genetics Laboratory, 2 allée des Séquoias, Limonest cedex (Lyon), France.
Jérôme
J
Mary
Valérie
V
Chetboul
Carolina Carlos
CC
Sampedrano
Marie
M
Abitbol
Vassiliki
V
Gouni
Emilie
E
Trehiou-Sechi
Renaud
R
Tissier
Guillaume
G
Queney
Jean-Louis
JL
Pouchelon
Anne
A
Thomas
D000818:Animals; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000235:genetics / Q000662:veterinary*; D002352:Carrier Proteins / Q000235:genetics*; D002371:Cat Diseases / Q000235:genetics*; D002415:Cats / Q000235:genetics; D004452:Echocardiography / Q000662:veterinary; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D008297:Male; D009154:Mutation / Q000235:genetics*; D015995:Prevalence; D000099163:Myosin Binding Protein C
D002352:Carrier Proteins; D000099163:Myosin Binding Protein C