{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T19:55:52Z","timestamp":1785009352234,"version":"3.55.0"},"reference-count":43,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,8,17]],"date-time":"2024-08-17T00:00:00Z","timestamp":1723852800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>X\u2010linked recessive dystrophinopathies are the most common muscular dystrophies (MDs) in humans and dogs. To date, 20 breed\u2010specific MD\u2010associated variants are described in the canine <jats:italic>dystrophin<\/jats:italic> gene (<jats:italic>DMD<\/jats:italic>), including one associated with dystrophin\u2010deficient MD in the Border Collie mixed breed. Here, we report the diagnosis and follow\u2010up of mild dystrophin\u2010deficient MD in a 5\u2010month\u2010old male Border Collie, associated with a novel <jats:italic>DMD<\/jats:italic> variant. Diagnosis was based on neurological examination and laboratory evaluations including creatine kinase activity, electromyography and muscle biopsies with immunofluorescent staining. Inspection of the Sashimi plots of the RNA\u2010seq data from the affected muscle biopsy led to the discovery of a 162\u2010bp\u2009L1 pseudoexon in <jats:italic>DMD<\/jats:italic> intron 63, introducing a frameshift and a premature stop codon (NM_001003343.1: c.9271_9272insN[162] p.(Ala3091fs*21)). Reduced <jats:italic>DMD<\/jats:italic> mRNA levels were detected for both the non\u2010pseudoexon (50\u00d7 less) and pseudoexon (3\u00d7 less) containing transcripts in the affected muscle, compared with the level of the non\u2010pseudoexon containing transcript in a control muscle, resulting in very low dystrophin protein levels and the upregulation of utrophin. Because the variant was only found in the affected dog, not in the healthy mother and grandmother, or in 108 unrelated Border Collies from the Belgian population (46 males and 62 females), it was considered a <jats:italic>de novo<\/jats:italic> variant. Although the prognosis for dystrophinopathy is generally regarded as poor, the dog stabilised at the age of 6\u2009months and is still clinically stable at the age of 2\u2009years.<\/jats:p>","DOI":"10.1111\/age.13470","type":"journal-article","created":{"date-parts":[[2024,8,17]],"date-time":"2024-08-17T07:24:04Z","timestamp":1723879444000},"page":"733-743","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Exonisation of an intronic <scp>L1<\/scp> element in the <i>dystrophin<\/i> gene associated with X\u2010linked muscular dystrophy in a Border Collie dog"],"prefix":"10.1111","volume":"55","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4316-8984","authenticated-orcid":false,"given":"Mario","family":"Van\u00a0Poucke","sequence":"first","affiliation":[{"name":"Department of Veterinary and Biosciences, Faculty of Veterinary Medicine Ghent University  Merelbeke Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5236-2295","authenticated-orcid":false,"given":"Liesbet","family":"Ledeganck","sequence":"additional","affiliation":[{"name":"Department of Small Animals, Faculty of Veterinary Medicine Ghent University  Merelbeke Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2935-2646","authenticated-orcid":false,"given":"Ling T.","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Pathology, School of Medicine University of California San Diego  La Jolla California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3332-1359","authenticated-orcid":false,"given":"G. Diane","family":"Shelton","sequence":"additional","affiliation":[{"name":"Department of Pathology, School of Medicine University of California San Diego  La Jolla California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3590-8348","authenticated-orcid":false,"given":"Sofie F. 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