OMIA 002584-9615 : Deafness, CDH23-related in Canis lupus familiaris
Category: 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
History: Abitbol et al. (2022) "identified a non-syndromic deafness in Beauceron dogs characterised by a bilateral hearing loss in puppies that is not linked to coat colour."
Inheritance: Abitbol et al. (2022): "Pedigree analysis suggested an autosomal recessive transmission. "
Molecular basis: "By combining homozygosity mapping with whole genome sequencing and variant filtering in affected dogs ... [Abitbol et al. (2022)] identified a CDH23:c.700C>T variant. The variant, located in the CHD23 (cadherin related 23) gene, was predicted to induce a CDH23:p.(Pro234Ser) change in the protein. Proline-234 of CDH23 protein is highly conserved across different vertebrate species. In silico tools predicted the CDH23:p.(Pro234Ser) change to be deleterious. CDH23 encodes a calcium-dependent transmembrane glycoprotein localised near the tips of hair-cell stereocilia in the mammalian inner ear. Intact function of these cilia is mandatory for the transformation of the acoustical wave into a neurological signal, leading to sensorineural deafness when impaired."
Clinical features: Affected puppies exhibit bilateral sensineural deafness from birth, which can be assessed by either behavioral tests or brainstem auditory evoked response (BAER) examinations. No other signs were noted by the owners or attending veterinarians (Abitbol et al. 2022).
Prevalence: Abitbol et al. (2022): "By genotyping a cohort of 90 control Beauceron dogs sampled in France, we found a 3.3% carrier frequency. "
Genetic testing: Abitbol et al. (2022): "The CDH23:c.[700C>T] allele is easily detectable with a genetic test to avoid at-risk matings."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CDH23||cadherin-related 23||Canis lupus familiaris||4||NC_051808.1 (22485192..22847328)||CDH23||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|
|1496||Beauceron||Deafness, CDH23-related||CDH23||missense||Naturally occurring variant||CanFam 3.1||4||g:22340631C>T||c.700C>T||p.(P234S)||ON462053; XM_022417544.1; XP_022273252.1||2022||36308003||The UU_Cfam_GSD_1.0 genomic variant coordinate is: g.Chr4:23074925C>T|
|2022||Abitbol, M., Jagannathan, V., Lopez, M., Courtin, A., Dufaure de Citres, C., Gache, V., Leeb, T. :|
|A CDH23 missense variant in Beauceron dogs with non-syndromic deafness. Anim Genet :, 2022. Pubmed reference: 36308003. DOI: 10.1111/age.13273.|
- Changed by Tosso Leeb on 31 Oct 2022
- Created by Frank Nicholas on 31 Oct 2022
- Changed by Frank Nicholas on 31 Oct 2022
- Changed by Tosso Leeb on 02 Nov 2022