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OMIA:002148-9615 : Deafness, bilateral, and vestibular dysfunction, MYO7A-related in Canis lupus familiaris (dog)

In other species: pig

Categories: Hearing / vestibular / ear phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 276900 (trait) , 600060 (trait) , 601317 (trait) , 276903 (gene)

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

Species-specific description: See also: OMIA:002196-9615 : Deafness, unilateral and vestibular dysfunction, PTPRQ-related  in Canis lupus familiaris (dog)

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 (Dog) (VBO_0200442).
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).

Associated gene:

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

Variants

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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 Year Published PubMed ID(s) Acknowledgements
1079 Doberman Pinscher (Dog) Deafness, bilateral, and vestibular dysfunction MYO7A missense Naturally occurring variant CanFam3.1 21 g.21563111C>T c.3719G>A p.(R1240Q) 2019 31097876
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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002148-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

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.
2005 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.
1992 Wilkes, M.K., Palmer, A.C. :
Congenital deafness and vestibular deficit in the Dobermann Journal of Small Animal Practice 33:218-224, 1992. DOI: 10.1111/j.1748-5827.1992.tb01120.x.

Edit History


  • Created by Frank Nicholas on 19 Apr 2018
  • Changed by Frank Nicholas on 19 Apr 2018
  • Changed by Frank Nicholas on 22 May 2019
  • Changed by Imke Tammen2 on 10 Jun 2024
  • Changed by Imke Tammen2 on 11 Jun 2024