Brunetti, Barbara; Muscatello, Luisa V; Letko, Anna; Papa, Valentina; Cenacchi, Giovanna; Grillini, Marco; Murgiano, Leonardo; Jagannathan, Vidya; 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(10) MDPI 10.3390/genes11101175
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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.
Item Type: |
Journal Article (Further Contribution) |
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Division/Institute: |
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics 05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) |
UniBE Contributor: |
Letko, Anna, Murgiano, Leonardo, Jagannathan, Vidya, Drögemüller, Cord |
Subjects: |
500 Science > 570 Life sciences; biology 500 Science > 590 Animals (Zoology) 600 Technology > 610 Medicine & health |
ISSN: |
2073-4425 |
Publisher: |
MDPI |
Language: |
English |
Submitter: |
Cord Drögemüller |
Date Deposited: |
26 Jan 2023 10:30 |
Last Modified: |
07 Aug 2024 15:45 |
Publisher DOI: |
10.3390/genes11101175 |
PubMed ID: |
33049940 |
Uncontrolled Keywords: |
Duchenne canine dystrophinopathy immunohistochemistry precision medicine |
BORIS DOI: |
10.48350/177887 |
URI: |
https://boris.unibe.ch/id/eprint/177887 |
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