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. OBJECTIVES: To evaluate the genetic association between the above-mentioned SNPs and phenotypes. ANIMALS: 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 AND CLINICAL IMPORTANCE: 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.
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. OBJECTIVES: To evaluate the genetic association between the above-mentioned SNPs and phenotypes. ANIMALS: 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 AND CLINICAL IMPORTANCE: 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: Arine Pellegrino; Alexandre G T Daniel; Guilherme G Pereira; Paula H Itikawa; Maria Helena M A Larsson Journal: Can J Vet Res Date: 2017-04 Impact factor: 1.310
Authors: M Longeri; P Ferrari; P Knafelz; A Mezzelani; A Marabotti; L Milanesi; G Pertica; M Polli; P G Brambilla; M Kittleson; L A Lyons; F Porciello Journal: J Vet Intern Med Date: 2013-01-17 Impact factor: 3.333
Authors: Philip R Fox; Bruce W Keene; Kenneth Lamb; Karsten A Schober; Valerie Chetboul; Virginia Luis Fuentes; Gerhard Wess; Jessie Rose Payne; Daniel F Hogan; Alison Motsinger-Reif; Jens Häggström; Emilie Trehiou-Sechi; Deborah M Fine-Ferreira; Reid K Nakamura; Pamela M Lee; Manreet K Singh; Wendy A Ware; Jonathan A Abbott; Geoffrey Culshaw; Sabine Riesen; Michele Borgarelli; Michael B Lesser; Nicole Van Israël; Etienne Côté; John E Rush; Barret Bulmer; Roberto A Santilli; Andrea C Vollmar; Maribeth J Bossbaly; Nadine Quick; Claudio Bussadori; Janice M Bright; Amara H Estrada; Dan G Ohad; Maria Josefa Fernández-Del Palacio; Jenifer Lunney Brayley; Denise S Schwartz; Christina M Bové; Sonya G Gordon; Seung Woo Jung; Paola Brambilla; N Sydney Moïse; Christopher D Stauthammer; Rebecca L Stepien; Cecilia Quintavalla; Christophe Amberger; Ferenc Manczur; Yong-Wei Hung; Remo Lobetti; Marie De Swarte; Alice Tamborini; Carmel T Mooney; Mark A Oyama; Andrey Komolov; Yoko Fujii; Romain Pariaut; Masami Uechi; Victoria Yukie Tachika Ohara Journal: J Vet Intern Med Date: 2018-04-16 Impact factor: 3.333