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Open AccessCase Report

X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD Gene

1
Department of Veterinary Medical Sciences, University of Bologna, 40064 Bologna, Italy
2
Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland
3
Department of Biomedical and Neuromotor Sciences, University of Bologna, 40138 Bologna, Italy
4
Pathology Unit, S Orsola Malpighi Hospital, University of Bologna, 40138 Bologna, Italy
5
Department of Clinical Sciences & Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
*
Author to whom correspondence should be addressed.
Genes 2020, 11(10), 1175; https://doi.org/10.3390/genes11101175
Received: 3 September 2020 / Revised: 30 September 2020 / Accepted: 5 October 2020 / Published: 8 October 2020
(This article belongs to the Special Issue Molecular Basis of Inherited Diseases in Companion Animals)
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. View Full-Text
Keywords: canine; dystrophinopathy; Duchenne; immunohistochemistry; precision medicine canine; dystrophinopathy; Duchenne; immunohistochemistry; precision medicine
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MDPI and ACS Style

Brunetti, B.; Muscatello, L.V.; Letko, A.; Papa, V.; Cenacchi, G.; Grillini, M.; Murgiano, L.; Jagannathan, V.; Drögemüller, C. X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD Gene. Genes 2020, 11, 1175. https://doi.org/10.3390/genes11101175

AMA Style

Brunetti B, Muscatello LV, Letko A, Papa V, Cenacchi G, Grillini M, Murgiano L, Jagannathan V, Drögemüller C. X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD Gene. Genes. 2020; 11(10):1175. https://doi.org/10.3390/genes11101175

Chicago/Turabian Style

Brunetti, Barbara; Muscatello, Luisa V.; Letko, Anna; Papa, Valentina; Cenacchi, Giovanna; Grillini, Marco; Murgiano, Leonardo; Jagannathan, Vidhya; Drögemüller, Cord. 2020. "X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD Gene" Genes 11, no. 10: 1175. https://doi.org/10.3390/genes11101175

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