Prevalence,geographic distribution,and impact on lifespan of a dilated cardiomyopathy-associated RNA-binding motif protein 20 variant in genotyped dogs |
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| Institution: | 1. Department of Small Animal Medicine and Surgery, College of Veterinary Medicine, University of Missouri, 1600 East Rollins, Columbia, MO, 65211, USA;2. Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Connaway Hall, Columbia, MO, 65211, USA;1. Cheshire Cardiology, The Beeches, Cheshire, WA16 8NE, UK;2. Department of Small Animal Clinical Sciences, Institute of Veterinary Science, University of Liverpool, Leahurst Campus, Chester High Road, Neston, Cheshire, CH64 7TE, UK;3. Faculty of Occupational Medicine, 2 Lovibond Lane, Greenwich, London, SE10 9FY, UK;4. HeartVets, Exeter, UK;1. Department of Veterinary Medical Sciences, Alma Mater Studiorum – University of Bologna, via Tolara di Sopra 50, 40064, Ozzano dell''Emilia, Italy;2. Freelance Veterinary Cardiologist, Bologna, Italy;3. Clinica Veterinaria Sasso Marconi, viale Verde 7, 40037, Sasso Marconi, Italy;4. Clinica Veterinaria San Sebastiano, via Boari 22, 04026, Minturno, Italy;5. Department of Veterinary Sciences, University of Parma, Strada del Taglio 10, 43126 Parma, Italy;1. Department of Small Animal Clinical Sciences, Virginia-Maryland College of Veterinary Medicine, Virginia Polytechnic Institute and State University, 204 Duck Pond Drive, Blacksburg, VA 24061-0442, USA;2. Department of Small Animal Clinical Sciences, College of Veterinary Medicine, University of Tennessee, 2407 River Drive, Knoxville, TN 37996, USA;3. Department of Veterinary Sciences, University of Parma, Strada del Taglio 10, 43126 PR, Italy;4. Department of Clinical Science, Faculty of Veterinary Medicine and Animal Science, Swedish University of Agricultural Science, Box 7054, Uppsala, Sweden;5. CVCA Cardiac Care for Pets, 1209 Cromwell Bridge Road, Towson, MD 21286, USA;6. CVCA Cardiac Care for Pets, 165 Fort Evans Road NE, Leesburg, VA 20176, USA;2. Department of Veterinary Sciences, University of Parma, Strada del Taglio, 10, 43126, Parma, Italy |
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| Abstract: | IntroductionThe study objectives were to determine the prevalence and geographic distribution of a dilated cardiomyopathy (DCM)-associated RNA-binding motif protein 20 (RBM20) variant in canine DNA samples submitted for testing and to evaluate the influence of the genotype on cardiac phenotype and lifespan.AnimalsSamples from 2136 dogs including 1834 Standard Schnauzers (SSNZ), 266 Giant Schnauzers (GSNZ), and 36 dogs of other breeds.MethodsThe University of Missouri Canine Genetics Laboratory's sample-accession spreadsheet and Orthopedic Foundation for Animals' database were retrospectively reviewed for samples submitted for RBM20 genotyping from November, 2013, through May, 2018. Data analyzed included breed, date of birth, RBM20 genotype (homozygous wild-type, heterozygous variant HET], or homozygous variant HOM]), geographic origin of submission, pedigree, cardiac phenotype, and date of death or current age if alive.Results and DiscussionThe RBM20 variant was only detected in SSNZ and GSNZ. A total of 389 SSNZ were variant-positive (prevalence = 21.2%), with 361 HET (19.7%) and 28 HOM (1.5%). Of the HOM SSNZ, DCM was confirmed in 26 of 28 (92.9%), with the remainder lost to follow-up. The median lifespan of HOM SSNZ (3.06 years) was significantly shorter than that for HET (15.11 years) and wild-type (15.18 years) SSNZ. Twenty-six GSNZ were variant-positive (prevalence = 9.8%), with 23 HET (8.6%) and three HOM (1.1%). Nine GSNZ belonged to one family, including the three HOM GSNZ that all had DCM.ConclusionsThe HOM genotype is associated with DCM and premature death in SSNZ and GSNZ. |
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| Keywords: | Schnauzers Congestive heart failure Genetics RBM20 |
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