{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T19:55:51Z","timestamp":1785009351300,"version":"3.55.0"},"reference-count":21,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2020,10,8]],"date-time":"2020-10-08T00:00:00Z","timestamp":1602115200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>A 9-month old male Jack Russell Terrier started showing paraparesis of the hindlimbs after a walk. Hospitalized, the dog went into cardiac arrest, and later died. Necroscopic examination revealed a severe thickness of the diaphragm, esophagus, and base of the tongue, leading to the diagnosis of muscular dystrophy. The histology confirmed the marked size variation, regeneration, and fibrosis replacement of the skeletal muscle fibers. Immunohistochemistry demonstrated the absence of dystrophin confirming the diagnosis. Transmission electron microscopy showed disarrangement of skeletal muscle fibers. Finally, whole-genome sequencing identified a ~368kb deletion spanning 19 exons of the canine dystrophin (DMD) gene. This pathogenic loss-of-function variant most likely explains the observed disease phenotype. The X-chromosomal variant was absent in seven controls of the same breed. Most likely, this partial deletion of the DMD gene was either transmitted on the maternal path within the family of the affected dog or arose de novo. This study revealed a spontaneous partial deletion in DMD gene in a Jack Russell Terrier showing a Duchenne-type muscular dystrophy due to non-functional dystrophin.<\/jats:p>","DOI":"10.3390\/genes11101175","type":"journal-article","created":{"date-parts":[[2020,10,8]],"date-time":"2020-10-08T08:52:41Z","timestamp":1602147161000},"page":"1175","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD Gene"],"prefix":"10.3390","volume":"11","author":[{"given":"Barbara","family":"Brunetti","sequence":"first","affiliation":[{"name":"Department of Veterinary Medical Sciences, University of Bologna, 40064 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4653-0624","authenticated-orcid":false,"given":"Luisa V.","family":"Muscatello","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medical Sciences, University of Bologna, 40064 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6521-1285","authenticated-orcid":false,"given":"Anna","family":"Letko","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0718-2965","authenticated-orcid":false,"given":"Valentina","family":"Papa","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Neuromotor Sciences, University of Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5824-3118","authenticated-orcid":false,"given":"Giovanna","family":"Cenacchi","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Neuromotor Sciences, University of Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2506-7239","authenticated-orcid":false,"given":"Marco","family":"Grillini","sequence":"additional","affiliation":[{"name":"Pathology Unit, S Orsola Malpighi Hospital, University of Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonardo","family":"Murgiano","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland"},{"name":"Department of Clinical Sciences &amp; Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8155-0041","authenticated-orcid":false,"given":"Vidhya","family":"Jagannathan","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9773-522X","authenticated-orcid":false,"given":"Cord","family":"Dr\u00f6gem\u00fcller","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,10,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1016\/j.nmd.2019.09.013","article-title":"Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants","volume":"29","author":"Jones","year":"2019","journal-title":"Neuromuscul. Disord."},{"key":"ref_2","first-page":"1","article-title":"Clinical and genetic characterisation of dystrophin-deficient muscular dystrophy in a family of Miniature Poodle dogs","volume":"13","author":"Guo","year":"2018","journal-title":"PLoS ONE"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1590\/S0004-282X2007000100016","article-title":"Duchenne and Becker muscular dystrophy: A molecular and immunohistochemical approach","volume":"65","author":"Freund","year":"2007","journal-title":"Arq. Neuropsiquiatr."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Deisch, J.K. (2017). Muscle and Nerve Development in Health and Disease, Elsevier Inc.. [6th ed.].","DOI":"10.1016\/B978-0-323-37101-8.00135-1"},{"key":"ref_5","first-page":"18","article-title":"A novel canine model for Duchenne muscular dystrophy (DMD): Single nucleotide deletion in DMD gene exon 20","volume":"8","author":"Hammond","year":"2018","journal-title":"Skelet. Muscle"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s40246-018-0152-8","article-title":"Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community","volume":"12","author":"Elhawary","year":"2018","journal-title":"Hum. Genom."},{"key":"ref_7","unstructured":"(2020, October 07). Duchenne and Becker Muscular Dystrophy, Available online: https:\/\/ghr.nlm.nih.gov\/condition\/duchenne-and-becker-muscular-dystrophy#sourcesforpage."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1016\/j.ncl.2013.04.004","article-title":"Muscular Dystrophies and Other Genetic Myopathies","volume":"31","author":"Shieh","year":"2013","journal-title":"Neurol. Clin."},{"key":"ref_9","doi-asserted-by":"crossref","unstructured":"Cooper, B.J., and Valentine, B. (2016). Muscle and Tendon. Jubb, Kennedy, and Palmer\u2019s Pathology of Domestic Animals, Elsevier.","DOI":"10.1016\/B978-0-7020-5317-7.00003-5"},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Walmsley, G.L., Arechavala-Gomeza, V., Fernandez-Fuente, M., Burke, M.M., Nagel, N., Holder, A., Stanley, R., Chandler, K., Marks, S.L., and Muntoni, F. (2010). A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient Cavalier King Charles Spaniels is amenable to exon 51 skipping. PLoS ONE, 5.","DOI":"10.1371\/journal.pone.0008647"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1111\/age.12834","article-title":"A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves","volume":"50","author":"Jagannathan","year":"2019","journal-title":"Anim. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1093\/bib\/bbs017","article-title":"Integrative Genomics Viewer (IGV): High-performance genomics data visualization and exploration","volume":"14","author":"Robinson","year":"2013","journal-title":"Brief. Bioinform."},{"key":"ref_13","unstructured":"(2020, October 07). European Nucleotide Archive (ENA). Available online: www.ebi.ac.uk\/ena."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1053\/jcpa.2001.0526","article-title":"Muscle lesions associated with dystrophin deficiency in neonatal golden retriever puppies","volume":"126","author":"Nguyen","year":"2002","journal-title":"J. Comp. Pathol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1002\/(SICI)1097-4598(199808)21:8<991::AID-MUS2>3.0.CO;2-0","article-title":"Alternative dystrophin gene transcripts in golden retriever muscular dystrophy","volume":"21","author":"Schatzberg","year":"1998","journal-title":"Muscle Nerve"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1204","DOI":"10.1016\/j.cell.2015.10.049","article-title":"Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype","volume":"163","author":"Vieira","year":"2015","journal-title":"Cell"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1007\/s00335-016-9675-2","article-title":"Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy","volume":"28","author":"Nghiem","year":"2017","journal-title":"Mamm. Genome"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1093\/jnen\/64.3.181","article-title":"Diagnostic immunohistology of muscle diseases","volume":"64","author":"Vogel","year":"2005","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1242\/dmm.018424","article-title":"Animal models of Duchenne muscular dystrophy: From basic mechanisms to gene therapy","volume":"8","author":"McGreevy","year":"2015","journal-title":"Dis. Model. Mech."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1007\/s00335-011-9382-y","article-title":"Canine models of Duchenne muscular dystrophy and their use in therapeutic strategies","volume":"23","author":"Kornegay","year":"2012","journal-title":"Mamm. Genome"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1016\/j.nmd.2018.08.008","article-title":"Characterization of Australian Labradoodle dystrophinopathy","volume":"28","author":"Shrader","year":"2018","journal-title":"Neuromuscul. Disord."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/11\/10\/1175\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T10:17:17Z","timestamp":1760177837000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/11\/10\/1175"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,8]]},"references-count":21,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2020,10]]}},"alternative-id":["genes11101175"],"URL":"https:\/\/doi.org\/10.3390\/genes11101175","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,8]]}}}