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OMIA 002550-9615 : Deafness, EPS8L2-related in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 617637 (trait) , 614988 (gene)

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."

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."

Breed: Rhodesian Ridgeback.

Associated gene:

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

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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1454 Rhodesian Ridgeback 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
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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.
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.

Edit History


  • Created by Frank Nicholas on 11 Apr 2022
  • Changed by Frank Nicholas on 11 Apr 2022