{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:36:13Z","timestamp":1747182973682,"version":"3.40.5"},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,10,28]],"date-time":"2022-10-28T00:00:00Z","timestamp":1666915200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital coat\u2010colour\u2010related deafness is common among certain canine breeds especially those exhibiting extreme white spotting or merle patterning. We identified a non\u2010syndromic deafness in Beauceron dogs characterised by a bilateral hearing loss in puppies that is not linked to coat colour. Pedigree analysis suggested an autosomal recessive transmission. By combining homozygosity mapping with whole genome sequencing and variant filtering in affected dogs we identified a CDH23:c.700C&gt;T variant. The variant, located in the <jats:italic>CHD23 (cadherin related 23)<\/jats:italic> gene, was predicted to induce a CDH23:p.(Pro234Ser) change in the protein. Proline\u2010234 of CDH23 protein is highly conserved across different vertebrate species. <jats:italic>In silico<\/jats:italic> tools predicted the CDH23:p.(Pro234Ser) change to be deleterious. <jats:italic>CDH23<\/jats:italic> encodes a calcium\u2010dependent transmembrane glycoprotein localised near the tips of hair\u2010cell 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. By genotyping a cohort of 90 control Beauceron dogs sampled in France, we found a 3.3% carrier frequency. The CDH23:c.[700C&gt;T] allele is easily detectable with a genetic test to avoid at\u2010risk matings.<\/jats:p>","DOI":"10.1111\/age.13273","type":"journal-article","created":{"date-parts":[[2022,10,29]],"date-time":"2022-10-29T06:05:27Z","timestamp":1667023527000},"page":"73-77","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A <i>CDH23<\/i> missense variant in Beauceron dogs with non\u2010syndromic deafness"],"prefix":"10.1111","volume":"54","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5615-7897","authenticated-orcid":false,"given":"Marie","family":"Abitbol","sequence":"first","affiliation":[{"name":"Univ Lyon, VetAgro Sup  Marcy\u2010l'Etoile France"},{"name":"Institut NeuroMyoG\u00e8ne INMG\u2010PNMG, CNRS UMR5261, INSERM U1315, Facult\u00e9 de M\u00e9decine, Rockefeller Universit\u00e9 Claude Bernard Lyon 1  Lyon 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