OMIA:000259-9615 : Deafness, generic in Canis lupus familiaris (dog)

In other species: domestic cat , horse , pig , llama , alpaca , American mink

Categories: Hearing / vestibular / ear phene

Mendelian trait/disorder: no

Mode of inheritance: Multifactorial

Considered a defect: yes

Key variant known: no

Species-specific name: Congenital sensorineural deafness

Species-specific symbol: CSD

Species-specific description: This entry focuses on congenital sensorineural deafness for which likely causal variants have so far not been identified. Several other forms of deafness in dogs have a Mendelian mode of inheritance and likely causal variants have been identified, some examples include 'OMIA:002550-9615 : Deafness, EPS8L2-related'; 'OMIA:002336-9615 : Deafness, LOXHD1-related'; 'OMIA:002326-9615 : Deafness, KLF7-related'; 'OMIA:002148-9615 : Deafness, bilateral, and vestibular dysfunction'; 'OMIA:002196-9615 : Deafness, unilateral and vestibular dysfunction'. A separate entry provides information for deafness with adult onset: 'OMIA:001727-9615 : Deafness, adult-onset'.

Inheritance: Lewis et al. (2020): "Heritability of CSD was approximately 0.3 (across models) and significantly >0. Genetic correlations between CSD and blue irises (+0.6) and pigmented head patch (-0.86) were large in magnitude and significantly different form 0."

Mapping: Sommerlad et al. (2010) mapped a gene for deafness in Australian Stumpy-Tail Cattle Dogs to chromosome CFA10. From a GWAS involving 235 Dalmations (157 with normal hearing and the rest with unilateral or bilateral hearing loss), each of which was genotyped with the Illumina high density SNP chip (yielding 106,435 informative SNPs), Kluth and Distl (2013) identified candidate regions on chromosomes CFA 2, 6, 14, 17, 27, 29 and 31. From a GWAS of 304 Dalmations, Hayward et al. (2020) identified regions on chromosomes CFA 23, 30, 37 and 38. A GWAS conducted by Haase et al. (2022) on "145 Dalmatians (86 hearing, 33 unilateral deaf and 26 bilateral deaf) from Australia" identified a candidate region on chromosome "CFA20 in the vicinity of MITF", which "has long been postulated as the major risk factor for [Congenital sensorineural deafness] CSD in the Dalmatian breed". Haase et al. (2022) then combined the Australian data with "304 Dalmatians sourced from the UK (N = 120) and the USA (N = 184)". Analyses of these combined data revealed "a single, well-defined genome-wide significant risk haplotype for CSD" in the vicinity of MITF on chromosome CFA20, and a genome-wide significant association on CFA8. It should be noted that this study tested but did not validate the variant with the strongest association reported by Kluth and Distl (2013) nor the strongest-associated variant reported by Hayward et al. (2020).

Prevalence: Lewis et al. (2020): "A total of 8955 Dalmatian puppies undergoing hearing function screening using brainstem auditory evoked response (BAER) between July 1992 and February 2019. . . . The overall prevalence of CSD was 17.8% (13.4%, unilateral; 4.4%, bilateral)." Marsh et al. (2021) reported "that overall CSD [congenital sensorineural deafness] prevalence in the ACD [Australian cattle dog] population in the UK was 11.4%, and puppies with a face patch were at reduced risk of the condition."

Control: Lewis et al. (2020): "A decrease in the prevalence and genetic risk of CSD implies breeders have been selecting for hearing dogs. Selective breeding based on estimated breeding values (EBVs) can help further decrease the prevalence of CSD in Dalmatians in the future." Haase et al. (2022): "While many questions remain, we believe that results from this study open the door for genetic testing. In combination with currently applied selection criteria for breeding animals, selecting animals with the protective MITF haplotype will assist with reducing the number of deaf Dalmatians."

Breeds: Australian Cattle Dog (Dog) (VBO_0200088), Border Collie (Dog) (VBO_0200193), Bull Terrier (Dog) (VBO_0200255), Catahoula Leopard Dog (Dog) (VBO_0200298), Dalmatian (Dog) (VBO_0200427), Dogo Argentino (Dog) (VBO_0200445), English Cocker Spaniel (Dog) (VBO_0200486), English Setter (Dog) (VBO_0200495), Jack Russell Terrier (Dog) (VBO_0200724), Whippet (Dog) (VBO_0201421).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000259-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2022 Haase, B., Willet, C.E., Chew, T., Samaha, G., Child, G., Wade, C.M. :
De-novo and genome-wide meta-analyses identify a risk haplotype for congenital sensorineural deafness in Dalmatian dogs. Sci Rep 12:15439, 2022. Pubmed reference: 36104420. DOI: 10.1038/s41598-022-19535-4.
2021 Marsh, O., Freeman, J., Pollard, D., De Risio, L. :
Congenital sensorineural deafness in Australian Cattle dogs in the UK: Prevalence and association with phenotype. Vet J 274:105711, 2021. Pubmed reference: 34182072. DOI: 10.1016/j.tvjl.2021.105711.
Seddon, J.M., Fortes, M., Kelly-Smith, M., Sommerlad, S.F., Hayward, J.J., Burmeister, L., De Risio, L., Mellersh, C., Freeman, J., Strain, G.M. :
Deafness in Australian Cattle Dogs associated to QTL on chromosome 20 in genome-wide association study analyses. Anim Genet 52:694-702, 2021. Pubmed reference: 34318504. DOI: 10.1111/age.13115.
Strain, G.M. :
Congenital sensorineural deafness in Dogo Argentino dogs: Prevalence and phenotype associations. Vet Rec 188:e299, 2021. Pubmed reference: 33870537. DOI: 10.1002/vetr.299.
2020 Hayward, J.J., Kelly-Smith, M., Boyko, A.R., Burmeister, L., De Risio, L., Mellersh, C., Freeman, J., Strain, G.M. :
A genome-wide association study of deafness in three canine breeds. PLoS One 15:e0232900, 2020. Pubmed reference: 32413090. DOI: 10.1371/journal.pone.0232900.
Kelly-Smith, M., Strain, G.M. :
STRING data mining of GWAS data in canine hereditary pigment-associated deafness. Vet Anim Sci 9:100118, 2020. Pubmed reference: 32734119. DOI: 10.1016/j.vas.2020.100118.
Lewis, T., Freeman, J., De Risio, L. :
Decline in prevalence of congenital sensorineural deafness in Dalmatian dogs in the United Kingdom. J Vet Intern Med 34:1524-1531, 2020. Pubmed reference: 32543777. DOI: 10.1111/jvim.15776.
Marsh, O.J.R., Freeman, J., Van Dijk, J., De Risio, L. :
Congenital sensorineural deafness in English setters in the United Kingdom: prevalence and association with phenotype and sex. Vet Rec 186:e13, 2020. Pubmed reference: 31662574. DOI: 10.1136/vr.105636.
Vasiliadis, D., Metzger, J., Distl, O. :
Demographic assessment of the Dalmatian dog - effective population size, linkage disequilibrium and inbreeding coefficients. Canine Med Genet 7:3, 2020. Pubmed reference: 32835229. DOI: 10.1186/s40575-020-00082-y.
2016 De Risio, L., Freeman, J., Lewis, T. :
Prevalence, heritability and genetic correlations of congenital sensorineural deafness and coat pigmentation phenotype in the English bull terrier. BMC Vet Res 12:146, 2016. Pubmed reference: 27443656. DOI: 10.1186/s12917-016-0777-6.
Płonek, M., Giza, E., Niedźwiedź, A., Kubiak, K., Nicpoń, J., Wrzosek, M. :
Evaluation of the occurrence of canine congenital sensorineural deafness in puppies of predisposed dog breeds using the brainstem auditory evoked response. Acta Vet Hung 64:425-435, 2016. Pubmed reference: 27993097. DOI: 10.1556/004.2016.040.
2015 Strain, G.M. :
The genetics of deafness in domestic animals. Front Vet Sci 2:29, 2015. Pubmed reference: 26664958. DOI: 10.3389/fvets.2015.00029.
2014 Blum, M., Distl, O. :
[Phenotypic trends and breeding values for canine congenital sensorineural deafness in Dalmatian dogs]. Berl Munch Tierarztl Wochenschr 127:70-6, 2014. Pubmed reference: 24490346.
2013 Kluth, S., Distl, O. :
Congenital sensorineural deafness in Dalmatian dogs associated with quantitative trait Loci. PLoS One 8:e80642, 2013. Pubmed reference: 24324618. DOI: 10.1371/journal.pone.0080642.
2012 Comito, B., Knowles, K.E., Strain, G.M. :
Congenital deafness in Jack Russell terriers: prevalence and association with phenotype. Vet J 193:404-7, 2012. Pubmed reference: 22456033. DOI: 10.1016/j.tvjl.2012.02.018.
Sommerlad, S.F., Morton, J.M., Haile-Mariam, M., Johnstone, I., Seddon, J.M., O'Leary, C.A. :
Prevalence of congenital hereditary sensorineural deafness in Australian Cattle Dogs and associations with coat characteristics and sex. BMC Vet Res 8:202, 2012. Pubmed reference: 23107143. DOI: 10.1186/1746-6148-8-202.
Strain, G.M. :
Canine deafness. Vet Clin North Am Small Anim Pract 42:1209-24, 2012. Pubmed reference: 23122177. DOI: 10.1016/j.cvsm.2012.08.010.
2011 De Risio, L., Lewis, T., Freeman, J., de Stefani, A., Matiasek, L., Blott, S. :
Prevalence, heritability and genetic correlations of congenital sensorineural deafness and pigmentation phenotypes in the Border Collie. Vet J 188:286-90, 2011. Pubmed reference: 20570536. DOI: 10.1016/j.tvjl.2010.05.012.
2010 Sommerlad, S., McRae, AF., McDonald, B., Johnstone, I., Cuttell, L., Seddon, JM., O'Leary, CA. :
Congenital sensorineural deafness in Australian Stumpy-Tail Cattle dogs is an autosomal recessive trait that maps to CFA10. PLoS One 5:e13364, 2010. Pubmed reference: 20967282. DOI: 10.1371/journal.pone.0013364.
2009 Strain, GM., Clark, LA., Wahl, JM., Turner, AE., Murphy, KE. :
Prevalence of deafness in dogs heterozygous or homozygous for the merle allele. J Vet Intern Med 23:282-6, 2009. Pubmed reference: 19192156. DOI: 10.1111/j.1939-1676.2008.0257.x.
Stritzel, S., Wöhlke, A., Distl, O. :
A role of the microphthalmia-associated transcription factor in congenital sensorineural deafness and eye pigmentation in Dalmatian dogs. J Anim Breed Genet 126:59-62, 2009. Pubmed reference: 19207931. DOI: 10.1111/j.1439-0388.2008.00761.x.
2007 Famula, TR., Cargill, EJ., Strain, GM. :
Heritability and complex segregation analysis of deafness in Jack Russell Terriers. BMC Vet Res 3:31, 2007. Pubmed reference: 17999773. DOI: 10.1186/1746-6148-3-31.
2006 Platt, S., Freeman, J., di Stefani, A., Wieczorek, L., Henley, W. :
Prevalence of unilateral and bilateral deafness in border collies and association with phenotype. J Vet Intern Med 20:1355-62, 2006. Pubmed reference: 17186850.
2005 Coppens, AG., Gilbert-Gregory, S., Steinberg, SA., Heizmann, C., Poncelet, L. :
Inner ear histopathology in "nervous Pointer dogs" with severe hearing loss. Hear Res 200:51-62, 2005. Pubmed reference: 15668038. DOI: 10.1016/j.heares.2004.08.019.
Rak, SG., Distl, O. :
Congenital sensorineural deafness in dogs: a molecular genetic approach toward unravelling the responsible genes. Vet J 169:188-96, 2005. Pubmed reference: 15727910. DOI: 10.1016/j.tvjl.2004.01.015.
2004 Cargill, EJ., Famula, TR., Strain, GM., Murphy, KE. :
Heritability and segregation analysis of deafness in U.S. Dalmatians. Genetics 166:1385-93, 2004. Pubmed reference: 15082557.
Strain, GM. :
Deafness prevalence and pigmentation and gender associations in dog breeds at risk. Vet J 167:23-32, 2004. Pubmed reference: 14623147. DOI: 10.1016/s1090-0233(03)00104-7.
2003 Brenig, B., Pfeiffer, I., Jaggy, A., Kathmann, I., Balzari, M., Gaillard, C., Dolf, G. :
Analysis of the 5' region of the canine PAX3 gene and exclusion as a candidate for Dalmatian deafness. Anim Genet 34:47-50, 2003. Pubmed reference: 12580786.
Juraschko, K., Meyer-Lindenberg, A., Nolte, I., Distl, O. :
Analysis of systematic effects on congenital sensorineural deafness in German Dalmatian dogs.[comment] Veterinary Journal 166:164-9, 2003.
Juraschko, K., Meyer-Lindenberg, A., Nolte, I., Distl, O. :
A regressive model analysis of congenital sensorineural deafness in German Dalmatian dogs. Mamm Genome 14:547-54, 2003. Pubmed reference: 12925887. DOI: 10.1007/s00335-002-3033-2.
2002 Muhle, A.C., Jaggy, A., Stricker, C., Steffen, F., Dolf, G., Busato, A., Kornberg, M., Mariscoliy, M., Sprenk, P., Gaillard, C. :
Further contributions to the genetic aspect of congenital sensorineural deafness in Dalmatians Veterinary Journal 163:311-318, 2002.
2000 Coppens, A.G., Resibois, A., Poncelet, L. :
Bilateral deafness in a Maltese terrier and a Great Pyrenean puppy: Inner ear morphology Journal of Comparative Pathology 122:223-228, 2000. Pubmed reference: 10684693. DOI: 10.1053/jcpa.1999.0360.
Famula, T.R., Oberbauer, A.M., Sousa, C.A. :
Complex segregation analysis of deafness in Dalmatians Am J Vet Res 61:550-3, 2000. Pubmed reference: 10803651. DOI: 10.2460/ajvr.2000.61.550.
Rollin, B.E. :
An ethicist's commentary on euthanizing deaf Dalmatian puppies. Canadian Veterinary Journal - Revue Veterinaire Canadienne 41:438-439, 2000.
1999 Cattanach, B. :
The 'dalmatian dilemma': white coat colour and deafness. J Small Anim Pract 40:193-4, 196, 198-200, 1999. Pubmed reference: 10340252. DOI: 10.1111/j.1748-5827.1999.tb03792.x.
Poncelet, L., Coppens, A., Deltenre, P. :
Puppy dogs deafness in Belgium: a two years retrospective study [French] Annales de Medecine Veterinaire 143:41-45, 1999.
Strain, G.M. :
Congenital deafness and its recognition Veterinary Clinics of North America - Small Animal Practice 29:895-+, 1999.
1998 Steffen, F., Jaggy, A. :
Deafness and its diagnosis in dogs and cats [German] Schweizer Archiv fur Tierheilkunde 140:397-404, 1998. Pubmed reference: 9803159.
Wood, J.L.N., Lakhani, K.H. :
Deafness in dalmatians - does sex matter Preventive Veterinary Medicine 36:39-50, 1998. Pubmed reference: 9677626.
1997 Townsend, H.G.G. :
101 dalmatians - but how many are congenitally deaf. Veterinary Journal 154:89-90, 1997.
Wood, J.L.N., Lakhani, K.H. :
Prevalence and prevention of deafness in the dalmatian - assessing the effect of parental hearing status and gender using ordinary logistic and generalized random litter effect models. Veterinary Journal 154:121-133, 1997.
1996 Famula, T.R., Oberbauer, A.M., Sousa, C.A. :
A threshold model analysis of deafness in dalmatians Mamm Genome 7:650-3, 1996. Pubmed reference: 8703116. DOI: 10.1007/s003359900199.
Strain, G.M. :
Aetiology, prevalence and diagnosis of deafness in dogs and cats [Review] Br Vet J 152:17-36, 1996. Pubmed reference: 8634862. DOI: 10.1016/s0007-1935(96)80083-2.
Wood, J.L.N., Delauche, A.J., Lakhani, K.H. :
The problem of inherited diseases. 6. Deafness in Dalmatians Journal of Small Animal Practice 37:559-561, 1996. Pubmed reference: 8934431.
1994 Greibrokk, T. :
Hereditary Deafness in the Dalmatian - Relationship to Eye and Coat Color Journal of the American Animal Hospital Association 30:170-176, 1994.
Steinberg, S.A., Klein, E., Killens, R.L., Uhde, T.W. :
Inherited deafness among nervous Pointer dogs. J Hered 85:56-9, 1994. Pubmed reference: 8120360.
Turner, S. :
Deafness in Dalmatians and Other Breeds Veterinary Record 134:200, 1994. Pubmed reference: 8171802.
1992 Holliday, T.A., Nelson, H.J., Williams, D.C., Willits, N. :
Unilateral and Bilateral Brainstem Auditory-Evoked Response Abnormalities in 900 Dalmatian Dogs Journal of Veterinary Internal Medicine 6:166-174, 1992. Pubmed reference: 1619593.
Strain, G.M., Kearney, M.T., Gignac, I.J., Levesque, D.C., Nelson, H.J., Tedford, B.L., Remsen, L.G. :
Brainstem Auditory-Evoked Potential Assessment of Congenital Deafness in Dalmatians - Associations with Phenotypic Markers Journal of Veterinary Internal Medicine 6:175-182, 1992. Pubmed reference: 1619594.
1991 Strain, G.M. :
Congenital Deafness in Dogs and Cats Compendium on Continuing Education for the Practicing Veterinarian 13:245, 1991.
1985 Sims, MH., Shull-Selcer, E. :
Electrodiagnostic evaluation of deafness in two English setter littermates. J Am Vet Med Assoc 187:398-404, 1985. Pubmed reference: 4030474.
1981 Gwin, R.M., Wyman, M., Lim, D.J., Ketring, K., Werling, K. :
Multiple ocular defects associated with partial albinism and deafness in the dog Journal of the American Animal Hospital Association 17:401-408, 1981.
1977 Anniko, M., Fabiansson, E., Nilsson, O. :
Deafness in an old English sheepdog. A case report. Arch Otorhinolaryngol 218:1-7, 1977. Pubmed reference: 579985.
1967 Roberts, S.R. :
Colour dilution and hereditary defects in Collie dogs American Journal of Ophthalmology 63:1762-1775, 1967. Pubmed reference: 4961230.
1956 Adams, E.W. :
Hereditary deafness in a family of Foxhounds Journal of the American Veterinary Medical Association 128:302-303, 1956. Pubmed reference: 13295142.
1933 Gray, H. :
Congenital deafness in dogs Our Dog 91:490, 1933.
1924 Fraser, J.S. :
Congenital deafness in a white bull terrier puppy. Journal of Laryngology and Otology 39:92-95, 1924.

Edit History

  • Created by Frank Nicholas on 12 Nov 2010
  • Changed by Frank Nicholas on 30 Dec 2013
  • Changed by Frank Nicholas on 18 Jun 2020
  • Changed by Imke Tammen2 on 01 Jul 2021
  • Changed by Imke Tammen2 on 06 Aug 2021
  • Changed by Imke Tammen2 on 02 Jun 2022
  • Changed by Frank Nicholas on 16 Sep 2022
  • Changed by Frank Nicholas on 20 Sep 2022
  • Changed by Frank Nicholas on 21 Sep 2022
  • Changed by Imke Tammen2 on 08 Feb 2024