OMIA:002550-9615 : Deafness, EPS8L2-related in Canis lupus familiaris (dog)
Categories: Hearing / vestibular / ear phene
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: 2022
Species-specific name: Early onset adult deafness
Species-specific symbol: EOAD
Inheritance: Kawakami et al. (2022) reported that "A segregation pattern of this deletion in a 2-generation nuclear family indicated an autosomal recessive mode of inheritance."
Mapping: Kawakami et al. (2022) "performed a genome-wide association study (GWAS) by using a sample of 23 affected and 162 control Rhodesian Ridgebacks. We identified a genomic region on canine chromosome 18 (CFA18) that is strongly associated with EOAD".
Molecular basis: Using "targeted Sanger sequencing analysis" of the CFA18 candidate region, Kawakami et al. (2022) "identified a 12-bp inframe deletion in EPS8L2 (CFA18:25,868,739-25,868,751 in the UMICH_Zoey_3.1/canFam5 reference genome build). Additional genotyping confirmed a strong association between the 12-bp deletion and EOAD, where all affected dogs were homozygous for the deletion, while none of the control dogs was a deletion homozygote."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Kawakami et al. (2022): "Rhodesian Ridgebacks exhibit a progressive postnatal deafness which may be observed as early as four months of age but more commonly observed within 1–2 years after birth . . . . This form of deafness, hereafter referred to as early onset adult deafness (EOAD), does not appear to be restricted to a specific bloodline because it has been identified in multiple Rhodesian Ridgeback populations, including North America, Europe, and Africa. . . . All affected dogs are visually indistinguishable from dogs with normal hearing by having fully pigmented coat, eyes, and noses, indicating that EOAD in Rhodesian Ridgebacks likely has a different genetic basis from pigmentation-related deafness." In their 2022 study, Kawakami et al. "identified 23 EOAD-affected Rhodesian Ridgebacks (11 males and 12 females) that were confirmed deaf by BAER testing; these dogs lost their hearing approximately from 6 months to 24 months after birth. All of the dogs were bilaterally deaf."
Rhodesian Ridgeback (Dog) (VBO_0201135).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|EPS8L2||EPS8-like 2||Canis lupus familiaris||18||NC_051822.1 (26347768..26364453)||EPS8L2||Homologene, Ensembl , NCBI gene|
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
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|
|1454||Rhodesian Ridgeback (Dog)||Early onset adult deafness||EPS8L2||deletion, small (<=20)||Naturally occurring variant||UMICH_Zoey_3.1/canFam5||18||g.25868739_25868750del||c.1033_1044del||p.(V345_L348del)||XM_038500406.1; XP_038356334.1; published as 12-bp inframe deletion in EPS8L2 (CFA18:25,868,739-25,868,751 in the UMICH_Zoey_3.1) corresponding to deletion of amino acids VHFL||2022||35385474|
Cite this entry
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||Kawakami, T., Raghavan, V., Ruhe, A.L., Jensen, M.K., Milano, A., Nelson, T.C., Boyko, A.R. :|
|Early onset adult deafness in the Rhodesian Ridgeback dog is associated with an in-frame deletion in the EPS8L2 gene. PLoS One 17:e0264365, 2022. Pubmed reference: 35385474. DOI: 10.1371/journal.pone.0264365.|
|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.|
- Created by Frank Nicholas on 11 Apr 2022
- Changed by Frank Nicholas on 11 Apr 2022