OMIA:002148-9615 : Deafness, bilateral, and vestibular dysfunction in Canis lupus familiaris
In other species: pig
Categories: Hearing / vestibular / ear phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 276900 (trait) , 600060 (trait) , 601317 (trait) , 276903 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2019
Species-specific name: DINGS
Mapping: A GWAS on 17 affected and 17 control Doberman Pinschers, each genotyped with CanineHD BeadChip array (yielding 78,223 informative markers) enabled Webb et al. (2019) to map this disorder to the 23.5 to 25.8 Mb region of chromosome CFA21. Autozygosity mapping showed the association peak to be at 24.0Mb.
Molecular basis: Analysis of sequence in the mapped region of an affected Doberman Pinscher enabled Webb et al. (2019) to identify a missence mutation in the MYO7A gene (c.3719G>A; p.R1240Q) as the likely causal variant. All affected dogs were homozygous for this variant.
Prevalence: Webb et al. (2019): "Of 632 [unaffected Doberman Pinscher] dogs tested, none were homozygous. We found that 62 dogs were heterozygous for the mutation, suggesting an allele frequency of 4.9% (62/1224 chromosomes sampled) and a carrier frequency in the breed of nearly 10%."
Breed: Doberman Pinscher.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MYO7A||myosin VIIA||Canis lupus familiaris||21||NC_051825.1 (21823670..21739388)||MYO7A||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1079||Doberman Pinscher||Deafness, bilateral, and vestibular dysfunction||MYO7A||missense||Naturally occurring variant||CanFam3.1||21||g.21563111C>T||c.3719G>A||p.(R1240Q)||2019||31097876|
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.
|2019||Webb, A.A., Ruhe, A.L., Neff, M.W., Webb, A.A., Ruhe, A.L., Neff, M.W. :|
|A missense mutation in MYO7A is associated with bilateral deafness and vestibular dysfunction in the Doberman pinscher breed. Can J Vet Res 83:142-148, 2019. Pubmed reference: 31097876 .|
|2012||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.|
|1992||Wilkes, M.K., Palmer, A.C. :|
|Congenital deafness and vestibular deficit in the Dobermann Journal of Small Animal Practice 33:218-224, 1992.|
- Changed by Frank Nicholas on 19 Apr 2018
- Created by Frank Nicholas on 19 Apr 2018
- Changed by Frank Nicholas on 22 May 2019