{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T08:50:51Z","timestamp":1759481451811,"version":"3.40.5"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,3,1]],"date-time":"2022-03-01T00:00:00Z","timestamp":1646092800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001711","name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","doi-asserted-by":"publisher","award":["172911"],"award-info":[{"award-number":["172911"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Inherited forms of cataract are a heterogeneous group of eye disorders known in livestock species. Clinicopathological analysis of a single case of impaired vision in a newborn Original Braunvieh calf revealed nuclear cataract. Whole\u2010genome sequencing of the parent\u2010offspring trio revealed a de novo mutation of <jats:italic>ADAMTSL4<\/jats:italic> in this case. The heterozygous p.Arg776His missense variant affects a conserved residue of the <jats:italic>ADAMTSL4<\/jats:italic> gene that encodes a secreted glycoprotein expressed in the lens throughout embryonic development. In humans, <jats:italic>ADAMTSL4<\/jats:italic> genetic variants cause recessively inherited forms of subluxation of the lens. Given that <jats:italic>ADAMTSL4<\/jats:italic> is a functional candidate gene for inherited disorders of the lens, we suggest that heterozygosity for the identified missense variant may have caused the congenital cataract in the affected calf. Cattle populations should be monitored for unexplained cataract cases, with subsequent DNA sequencing a hypothesized pathogenic effect of heterozygous <jats:italic>ADAMTSL4<\/jats:italic> variants could be confirmed.<\/jats:p>","DOI":"10.1111\/age.13178","type":"journal-article","created":{"date-parts":[[2022,3,2]],"date-time":"2022-03-02T07:59:00Z","timestamp":1646207940000},"page":"416-421","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A <i>de novo<\/i> variant in the bovine <i>ADAMTSL4<\/i> gene in an Original Braunvieh calf with congenital cataract"],"prefix":"10.1111","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5648-963X","authenticated-orcid":false,"given":"Irene M.","family":"H\u00e4fliger","sequence":"first","affiliation":[{"name":"Institute of Genetics Vetsuisse Faculty University of Bern  Bern 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