{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T11:13:14Z","timestamp":1784545994645,"version":"3.55.0"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,4,2]],"date-time":"2020-04-02T00:00:00Z","timestamp":1585785600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001711","name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","doi-asserted-by":"publisher","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":[[2020,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Fifteen cases of chondrodysplasia characterized by disproportionate dwarfism occurred in the progeny of a single Holstein bull. A <jats:italic>de novo<\/jats:italic> mutation event in the germline of the sire was suspected as cause. Whole\u2010genome sequencing revealed a single protein\u2010changing variant in the stop codon of <jats:italic>FGFR3<\/jats:italic> gene on chromosome 6. Sanger sequencing of EDTA blood proved that this variant occurred <jats:italic>de novo<\/jats:italic> and segregates perfectly with the observed phenotype in the affected cattle family. <jats:italic>FGFR3<\/jats:italic> is an important regulator gene in bone formation owing to its key role in the bone elongation induced by FGFR3\u2010dimers. The detected paternally inherited stop\u2010lost variant in <jats:italic>FGFR3<\/jats:italic> is predicted to add 93 additional amino acids to the protein\u2019s C\u2010terminus. This study provides a second example of a dominant <jats:italic>FGFR3<\/jats:italic> stop\u2010lost variant as a pathogenic mutation of a severe form of chondrodysplasia. Even though <jats:italic>FGFR3<\/jats:italic> is known to be associated with dwarfism and growth disorders in human and sheep, this study is the first to describe <jats:italic>FGFR3<\/jats:italic>\u2010associated chondrodysplasia in cattle.<\/jats:p>","DOI":"10.1111\/age.12934","type":"journal-article","created":{"date-parts":[[2020,4,2]],"date-time":"2020-04-02T10:36:38Z","timestamp":1585823798000},"page":"466-469","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["<i>De novo<\/i> stop\u2010lost germline mutation in <i>FGFR3<\/i> causes severe chondrodysplasia in the progeny of a Holstein bull"],"prefix":"10.1111","volume":"51","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5648-963X","authenticated-orcid":false,"given":"I. 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