title: Association of A31P and A74T polymorphisms in the myosin binding protein C3 gene and hypertrophic cardiomyopathy in Maine Coon and other breed cats.
abstract: BACKGROUND
  Hypertrophic cardiomyopathy (HCM) is an inherited autosomal dominant trait in cats. The A31P single nucleotide polymorphism (SNP) in the myosin binding protein C 3 gene is thought to be the causative mutation in Maine Coon cats. Additionally, the A74T SNP is offered as a genetic test for HCM.
  
  
  OBJECTIVE
  To evaluate the genetic association between the above-mentioned SNPs and phenotypes.
  
  
  METHODS
  Eighty-three Maine Coon cats and 68 cats of other breeds.
  
  
  METHODS
  The study was performed prospectively. Cats were phenotyped as healthy or HCM with echocardiography. Taqman genotyping assays were used for genotyping; results were confirmed by sequencing analysis.
  
  
  RESULTS
  A31P was found in 18/83 (22%) Maine Coon cats. Fifteen of 18 Maine Coons (83%) with the A31P mutation were healthy on echocardiographic examination (mean age 65 months). A74T was present in 28/79 (35%) of Maine Coons and in 42/68 (62%) of other cat breeds. Twenty-two of 28 (79%) of Maine Coons and 21/42 (62%) of other breed cats with the A74T mutation were healthy at a mean age of 72 months and 91 months, respectively. Of 12 Maine Coons with HCM, 9 (75%) were genotype-negative for A31P and 6 (50%) for A74T. Allele frequencies did not differ significantly (P= .47) between phenotype groups. None of the evaluated genetic tests was able to provide useful predictive information of disease outcome.
  
  
  CONCLUSIONS
  The value of currently available genetic tests is low in the cats of this study. The mutations analyzed appear to have a low penetrance, and even homozygote cats can remain healthy.
authors.affiliation: Clinic of Small Animal Medicine, Ludwig-Maximilians-University, Munich, Germany. gwess@lmu.de
authors.forename: G
authors.initials: G
authors.lastname: Wess
authors.forename: C
authors.initials: C
authors.lastname: Schinner
authors.forename: K
authors.initials: K
authors.lastname: Weber
authors.forename: H
authors.initials: H
authors.lastname: Küchenhoff
authors.forename: K
authors.initials: K
authors.lastname: Hartmann
mesh_terms: D000818:Animals; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics / Q000662:veterinary*; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism*; D002371:Cat Diseases / Q000235:genetics*; D002415:Cats; D004452:Echocardiography / Q000662:veterinary; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D005838:Genotype; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012680:Sensitivity and Specificity; D000099163:Myosin Binding Protein C
chemical_list: D002352:Carrier Proteins; D000099163:Myosin Binding Protein C