Dystrophin-deficient muscular dystrophy in a Toy Poodle with a single base pair insertion in exon 45 of the <i>Duchenne muscular dystrophy</i> gene
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- SAKAI Kosei
- Veterinary Medical Center, Graduate School of Life and Environmental Sciences, Osaka Prefecture University, Osaka, Japan
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- MOTEGI Tomoki
- Department of Veterinary Clinical Pathobiology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Tokyo, Japan
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- CHAMBERS James Ken
- Department of Veterinary Pathology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Tokyo, Japan
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- UCHIDA Kazuyuki
- Department of Veterinary Pathology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Tokyo, Japan
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- NISHIDA Hidetaka
- Laboratory of Veterinary Surgery, Graduate School of Life and Environmental Sciences, Osaka Prefecture University, Osaka, Japan
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- SHIMAMURA Shunsuke
- Veterinary Medical Center, Graduate School of Life and Environmental Sciences, Osaka Prefecture University, Osaka, Japan
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- TANI Hiroyuki
- Laboratory of Veterinary Internal Medicine, Graduate School of Life and Environmental Sciences, Osaka Prefecture University, Osaka, Japan
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- SHIMADA Terumasa
- Veterinary Medical Center, Graduate School of Life and Environmental Sciences, Osaka Prefecture University, Osaka, Japan
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- FURUYA Masaru
- Laboratory of Veterinary Internal Medicine, Graduate School of Life and Environmental Sciences, Osaka Prefecture University, Osaka, Japan
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Abstract
<p>A 10-month-old, intact male Toy Poodle was referred for a postural abnormality. Blood biochemical tests revealed a marked increase in plasma creatine phosphokinase (CPK) concentration. The isoenzyme test showed that 99% of serum CPK consisted of CPK-MM. Histopathological evaluation of muscle biopsy samples confirmed scattered degeneration and necrosis of myofibers. Immunohistochemistry for dystrophin showed an absence of staining in muscle cells. Based on these findings, the dog was diagnosed with dystrophin-deficient muscular dystrophy. Whole genome sequencing using genomic DNA extracted from blood revealed a single base pair insertion in exon 45 of the Duchenne muscular dystrophy (DMD) gene. This is the first report on muscular dystrophy in Toy Poodles and identified a novel mutation in the DMD gene.</p>
Journal
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- Journal of Veterinary Medical Science
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Journal of Veterinary Medical Science 84 (4), 502-506, 2022
JAPANESE SOCIETY OF VETERINARY SCIENCE