OMIA 002148-9615 : Deafness, bilateral, and vestibular dysfunction in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 276900 , 600060 , 601317

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.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MYO7A myosin VIIA Canis lupus familiaris 21 NC_006603.3 (21624063..21539735) MYO7A Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Doberman Pinscher Deafness, bilateral, and vestibular dysfunction MYO7A missense CanFam3.1 21 g.21,563,111G>A c.3719G>A p.R1240Q 2019 31097876

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.
1992 Wilkes, M.K., Palmer, A.C. :
Congenital Deafness and Vestibular Deficit in the Dobermann Journal of Small Animal Practice 33:218-224, 1992.

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