Widespread severe myodegeneration in a compound heterozygote female dog with dystrophin deficiency
© 2021 The Authors Veterinary Medicine and Science Published by John Wiley & Sons Ltd..
The University of Missouri (MU) has established a colony of dystrophin-deficient dogs with a mixed breed background to mirror the variable pathologic effects of dystrophinopathies between persons of a given kindred to further the understanding of the genetic and molecular basis of the variable phenotype; thus to facilitate discovery of an effective therapeutic strategy. Herein we report the phenotype and genotype of a normal-appearing 10-month-old colony female that died suddenly. At necropsy examination, there were reduced skeletal and laryngeal muscle volume and mild dilatation of the oesophagus. Microscopic findings consisted of extensive degeneration and regeneration of the axial skeletal, tongue, oesophageal, and laryngeal muscles that were characterized by considerable central nucleation, individual fibre mineralization and interstitial fibrosis. The myocardial findings were limited to infiltration of adipose cells in the interstitium. The female dog was a compound heterozygote with one X chromosome carrying a point mutation in intron 6 of the dystrophin gene and the other X chromosome carrying a repetitive element insertion in intron 13 of the dystrophin gene. Although the direct cause of death was uncertain, it might likely be due to sudden cardiac death as has been seen in Duchenne muscular dystrophy patients. This case demonstrated dystrophinopathy in female dogs that have no ameliorating normal X chromosome.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:7 |
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| Enthalten in: |
Veterinary medicine and science - 7(2021), 3 vom: 17. Mai, Seite 654-659 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Fortin, Jessica S [VerfasserIn] |
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| Links: |
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| Themen: |
Canine |
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| Anmerkungen: |
Date Completed 18.10.2021 Date Revised 18.10.2021 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1002/vms3.433 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM320639304 |
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| 245 | 1 | 0 | |a Widespread severe myodegeneration in a compound heterozygote female dog with dystrophin deficiency |
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| 500 | |a Date Revised 18.10.2021 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2021 The Authors Veterinary Medicine and Science Published by John Wiley & Sons Ltd. | ||
| 520 | |a The University of Missouri (MU) has established a colony of dystrophin-deficient dogs with a mixed breed background to mirror the variable pathologic effects of dystrophinopathies between persons of a given kindred to further the understanding of the genetic and molecular basis of the variable phenotype; thus to facilitate discovery of an effective therapeutic strategy. Herein we report the phenotype and genotype of a normal-appearing 10-month-old colony female that died suddenly. At necropsy examination, there were reduced skeletal and laryngeal muscle volume and mild dilatation of the oesophagus. Microscopic findings consisted of extensive degeneration and regeneration of the axial skeletal, tongue, oesophageal, and laryngeal muscles that were characterized by considerable central nucleation, individual fibre mineralization and interstitial fibrosis. The myocardial findings were limited to infiltration of adipose cells in the interstitium. The female dog was a compound heterozygote with one X chromosome carrying a point mutation in intron 6 of the dystrophin gene and the other X chromosome carrying a repetitive element insertion in intron 13 of the dystrophin gene. Although the direct cause of death was uncertain, it might likely be due to sudden cardiac death as has been seen in Duchenne muscular dystrophy patients. This case demonstrated dystrophinopathy in female dogs that have no ameliorating normal X chromosome | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, N.I.H., Extramural | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a Duchenne muscular dystrophy | |
| 650 | 4 | |a canine | |
| 650 | 4 | |a compound heterozygote | |
| 650 | 4 | |a dystrophin | |
| 650 | 7 | |a Dystrophin |2 NLM | |
| 700 | 1 | |a Hakim, Chady H |e verfasserin |4 aut | |
| 700 | 1 | |a Korte, Scott |e verfasserin |4 aut | |
| 700 | 1 | |a Yang, N Nora |e verfasserin |4 aut | |
| 700 | 1 | |a Fitzgerald, Scott D |e verfasserin |4 aut | |
| 700 | 1 | |a Johnson, Gayle C |e verfasserin |4 aut | |
| 700 | 1 | |a Smith, Bruce F |e verfasserin |4 aut | |
| 700 | 1 | |a Duan, Dongsheng |e verfasserin |4 aut | |
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