4.1 Article

Dystrophin-deficient muscular dystrophy in a Toy Poodle with a single base pair insertion in exon 45 of the Duchenne muscular dystrophy gene

Journal

JOURNAL OF VETERINARY MEDICAL SCIENCE
Volume 84, Issue 4, Pages 502-506

Publisher

JAPAN SOC VET SCI
DOI: 10.1292/jvms.21-0504

Keywords

duchenne muscular dystrophy; dystrophin; insertion; muscular dystrophy; Toy Poodle

Funding

  1. JSPS KAKENHI [JP20K15675]

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This study reported a case of muscular dystrophy in Toy Poodles and identified a novel mutation in the DMD gene.
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.

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