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Evaluation of deafness in American Paint Horses by phenotype, brainstem auditory-evoked responses, and endothelin receptor B genotype.
Abstract: To evaluate deafness in American Paint Horses by phenotype, clinical findings, brainstem auditory-evoked responses (BAERs), and endothelin B receptor (EDNBR) genotype. Methods: Case series and case-control studies. Methods: 14 deaf American Paint Horses, 20 suspected-deaf American Paint Horses, and 13 nondeaf American Paint Horses and Pintos. Methods: Horses were categorized on the basis of coat color pattern and eye color. Testing for the EDNBR gene mutation (associated with overo lethal white foal syndrome) and BAERs was performed. Additional clinical findings were obtained from medical records. Results: All 14 deaf horses had loss of all BAER waveforms consistent with complete deafness. Most horses had the splashed white or splashed white-frame blend coat pattern. Other patterns included frame overo and tovero. All of the deaf horses had extensive head and limb white markings, although the amount of white on the neck and trunk varied widely. All horses had at least 1 partially heterochromic iris, and most had 2 blue eyes. Ninety-one percent (31/34) of deaf and suspected-deaf horses had the EDNBR gene mutation. Deaf and suspected-deaf horses were used successfully for various performance events. All nondeaf horses had unremarkable BAER results. Conclusions: Veterinarians should be aware of deafness among American Paint Horses, particularly those with a splashed white or frame overo coat color pattern, blend of these patterns, or tovero pattern. Horses with extensive head and limb markings and those with blue eyes appeared to be at particular risk.
Publication Date: 2009-11-17 PubMed ID: 19912043DOI: 10.2460/javma.235.10.1204Google Scholar: Lookup The Equine Research Bank provides access to a large database of publicly available scientific literature. Inclusion in the Research Bank does not imply endorsement of study methods or findings by Mad Barn.
- Journal Article
Summary
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The research paper investigates the correlation between deafness in American Paint Horses and several factors: their physical characteristics (phenotype), their brainstem auditory-evoked responses (BAERs), and their endothelin receptor B (EDNBR) genotype. The findings reveal a strong link between deafness and certain traits, such as the splashed white or frame overo coat color pattern, extensive white head and limb markings, and blue eyes.
Methodology of the Study
- The study was segmented into case series and case-control studies, involving 14 deaf American Paint Horses, 20 suspected-deaf American Paint Horses, and 13 nondeaf American Paint Horses and Pintos.
- Horses were categorized according to their coat color patterns and eye color. They were tested for the EDNBR gene mutation (commonly associated with overo lethal white foal syndrome). The horses also underwent Brainstem Auditory-Evoked Responses (BAERs) tests.
- Further clinical findings were gathered from the horses’ medical records.
Key Findings of the Study
- All 14 deaf horses exhibited a loss of all waveforms on their BAERs test, which is consistent with complete deafness.
- The majority of these horses exhibited a splashed white or splashed white-frame blend coat pattern. Other observed patterns include frame overo and tovero.
- The deaf horses all showed extensive white head and limb markings while having at least one partially heterochromic iris – most had two blue eyes.
- Ninety-one percent (31 out of 34) of the deaf and suspected-deaf horses were found to have a mutation in the EDNBR gene.
- Horses with no hearing loss displayed normal BAER test results.
Implications of the Study
- The study suggests that veterinarians should be aware of the potential for deafness in American Paint Horses, particularly those with a splashed white or frame overo coat color pattern, or a blend of these patterns.
- Horses with extensive white markings on the head and limbs and those with blue eyes appear to be at a particular risk for deafness.
- Despite their hearing loss, the deaf and suspected-deaf horses were able to perform various events successfully, indicating that deafness did not affect their performance capabilities.
Cite This Article
APA
Magdesian KG, Williams DC, Aleman M, Lecouteur RA, Madigan JE.
(2009).
Evaluation of deafness in American Paint Horses by phenotype, brainstem auditory-evoked responses, and endothelin receptor B genotype.
J Am Vet Med Assoc, 235(10), 1204-1211.
https://doi.org/10.2460/javma.235.10.1204 Publication
Researcher Affiliations
- Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California-Davis, Davis, CA 95616, USA. kgmagdesian@vmth.ucdavis.edu
MeSH Terms
- Animals
- Behavior, Animal
- Deafness / diagnosis
- Deafness / genetics
- Deafness / veterinary
- Evoked Potentials, Auditory, Brain Stem / physiology
- Female
- Genetic Predisposition to Disease
- Genotype
- Horse Diseases / diagnosis
- Horse Diseases / genetics
- Horses
- Iris
- Male
- Pigmentation / genetics
- Pigmentation / physiology
- Receptors, Endothelin / genetics
Citations
This article has been cited 15 times.- Liu X, Peng Y, Zhang X, Wang X, Chen W, Kou X, Liang H, Ren W, Khan MZ, Wang C. Coloration in Equine: Overview of Candidate Genes Associated with Coat Color Phenotypes. Animals (Basel) 2024 Jun 17;14(12).
- Rudd Garces G, Farke D, Schmidt MJ, Letko A, Schirl K, Abitbol M, Leeb T, Lyons LA, Lühken G. PAX3 haploinsufficiency in Maine Coon cats with dominant blue eyes and hearing loss resembling the human Waardenburg syndrome. G3 (Bethesda) 2024 Sep 4;14(9).
- Avila F, Hughes SS, Magdesian KG, Penedo MCT, Bellone RR. Breed Distribution and Allele Frequencies of Base Coat Color, Dilution, and White Patterning Variants across 28 Horse Breeds. Genes (Basel) 2022 Sep 13;13(9).
- Aleman MR, True A, Scalco R, Crowe CM, Costa LRR, Chigerwe M. Gentamicin-induced sensorineural auditory loss in healthy adult horses. J Vet Intern Med 2021 Sep;35(5):2486-2494.
- Rørvang MV, Nielsen BL, McLean AN. Sensory Abilities of Horses and Their Importance for Equitation Science. Front Vet Sci 2020;7:633.
- Magdesian KG, Tanaka J, Bellone RR. A De Novo MITF Deletion Explains a Novel Splashed White Phenotype in an American Paint Horse. J Hered 2020 May 20;111(3):287-293.
- Finch J, Abrams S, Finch A. Analogs of human genetic skin disease in domesticated animals. Int J Womens Dermatol 2017 Sep;3(3):170-175.
- Strain GM. The Genetics of Deafness in Domestic Animals. Front Vet Sci 2015;2:29.
- Lecoq L, Gains M, Blond L, Parent J. Brainstem auditory evoked responses in foals: reference values, effect of age, rate of acoustic stimulation, and neurologic deficits. J Vet Intern Med 2015 Jan;29(1):362-7.
- David VA, Menotti-Raymond M, Wallace AC, Roelke M, Kehler J, Leighty R, Eizirik E, Hannah SS, Nelson G, Schäffer AA, Connelly CJ, O'Brien SJ, Ryugo DK. Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic cats. G3 (Bethesda) 2014 Aug 1;4(10):1881-91.
- Aleman M, Madigan JE, Williams DC, Holliday TA. Brainstem auditory evoked responses in an equine patient population. Part II: foals. J Vet Intern Med 2014 Jul-Aug;28(4):1318-24.
- Aleman M, Holliday TA, Nieto JE, Williams DC. Brainstem auditory evoked responses in an equine patient population: part I--adult horses. J Vet Intern Med 2014 Jul-Aug;28(4):1310-7.
- Ryugo DK, Menotti-Raymond M. Feline deafness. Vet Clin North Am Small Anim Pract 2012 Nov;42(6):1179-207.
- Brosnahan MM, Brooks SA, Antczak DF. Equine clinical genomics: A clinician's primer. Equine Vet J 2010 Oct;42(7):658-70.
- Webb AA, Cullen CL. Coat color and coat color pattern-related neurologic and neuro-ophthalmic diseases. Can Vet J 2010 Jun;51(6):653-7.
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