X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine <i>DMD</i> Gene
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 musc...
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MDPI AG
2020-10-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/11/10/1175 |
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| author | Barbara Brunetti Luisa V. Muscatello Anna Letko Valentina Papa Giovanna Cenacchi Marco Grillini Leonardo Murgiano Vidhya Jagannathan Cord Drögemüller |
| author_facet | Barbara Brunetti Luisa V. Muscatello Anna Letko Valentina Papa Giovanna Cenacchi Marco Grillini Leonardo Murgiano Vidhya Jagannathan Cord Drögemüller |
| author_sort | Barbara Brunetti |
| collection | DOAJ |
| description | 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 (<i>DMD</i>) 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 <i>DMD</i> 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 <i>DMD</i> gene in a Jack Russell Terrier showing a Duchenne-type muscular dystrophy due to non-functional dystrophin. |
| first_indexed | 2024-03-10T15:47:31Z |
| format | Article |
| id | doaj.art-20f7c11345d1434ab81da61a55955785 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T15:47:31Z |
| publishDate | 2020-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-20f7c11345d1434ab81da61a559557852023-11-20T16:19:59ZengMDPI AGGenes2073-44252020-10-011110117510.3390/genes11101175X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine <i>DMD</i> GeneBarbara Brunetti0Luisa V. Muscatello1Anna Letko2Valentina Papa3Giovanna Cenacchi4Marco Grillini5Leonardo Murgiano6Vidhya Jagannathan7Cord Drögemüller8Department of Veterinary Medical Sciences, University of Bologna, 40064 Bologna, ItalyDepartment of Veterinary Medical Sciences, University of Bologna, 40064 Bologna, ItalyInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, SwitzerlandDepartment of Biomedical and Neuromotor Sciences, University of Bologna, 40138 Bologna, ItalyDepartment of Biomedical and Neuromotor Sciences, University of Bologna, 40138 Bologna, ItalyPathology Unit, S Orsola Malpighi Hospital, University of Bologna, 40138 Bologna, ItalyInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, SwitzerlandInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, SwitzerlandInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, SwitzerlandA 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 (<i>DMD</i>) 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 <i>DMD</i> 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 <i>DMD</i> gene in a Jack Russell Terrier showing a Duchenne-type muscular dystrophy due to non-functional dystrophin.https://www.mdpi.com/2073-4425/11/10/1175caninedystrophinopathyDuchenneimmunohistochemistryprecision medicine |
| spellingShingle | Barbara Brunetti Luisa V. Muscatello Anna Letko Valentina Papa Giovanna Cenacchi Marco Grillini Leonardo Murgiano Vidhya Jagannathan Cord Drögemüller X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine <i>DMD</i> Gene Genes canine dystrophinopathy Duchenne immunohistochemistry precision medicine |
| title | X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine <i>DMD</i> Gene |
| title_full | X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine <i>DMD</i> Gene |
| title_fullStr | X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine <i>DMD</i> Gene |
| title_full_unstemmed | X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine <i>DMD</i> Gene |
| title_short | X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine <i>DMD</i> Gene |
| title_sort | x linked duchenne type muscular dystrophy in jack russell terrier associated with a partial deletion of the canine i dmd i gene |
| topic | canine dystrophinopathy Duchenne immunohistochemistry precision medicine |
| url | https://www.mdpi.com/2073-4425/11/10/1175 |
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