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X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD 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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Autores principales: Brunetti, Barbara, Muscatello, Luisa V., Letko, Anna, Papa, Valentina, Cenacchi, Giovanna, Grillini, Marco, Murgiano, Leonardo, Jagannathan, Vidhya, Drögemüller, Cord
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7600251/
https://www.ncbi.nlm.nih.gov/pubmed/33049940
http://dx.doi.org/10.3390/genes11101175
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author Brunetti, Barbara
Muscatello, Luisa V.
Letko, Anna
Papa, Valentina
Cenacchi, Giovanna
Grillini, Marco
Murgiano, Leonardo
Jagannathan, Vidhya
Drögemüller, Cord
author_facet Brunetti, Barbara
Muscatello, Luisa V.
Letko, Anna
Papa, Valentina
Cenacchi, Giovanna
Grillini, Marco
Murgiano, Leonardo
Jagannathan, Vidhya
Drögemüller, Cord
author_sort Brunetti, Barbara
collection PubMed
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 (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.
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spelling pubmed-76002512020-11-01 X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD Gene Brunetti, Barbara Muscatello, Luisa V. Letko, Anna Papa, Valentina Cenacchi, Giovanna Grillini, Marco Murgiano, Leonardo Jagannathan, Vidhya Drögemüller, Cord Genes (Basel) Case Report 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. MDPI 2020-10-08 /pmc/articles/PMC7600251/ /pubmed/33049940 http://dx.doi.org/10.3390/genes11101175 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Brunetti, Barbara
Muscatello, Luisa V.
Letko, Anna
Papa, Valentina
Cenacchi, Giovanna
Grillini, Marco
Murgiano, Leonardo
Jagannathan, Vidhya
Drögemüller, Cord
X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD Gene
title X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD Gene
title_full X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD Gene
title_fullStr X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD Gene
title_full_unstemmed X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD Gene
title_short X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD Gene
title_sort x-linked duchenne-type muscular dystrophy in jack russell terrier associated with a partial deletion of the canine dmd gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7600251/
https://www.ncbi.nlm.nih.gov/pubmed/33049940
http://dx.doi.org/10.3390/genes11101175
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