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Updated: Aug 22, 2025

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy
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A Nonsense Variant in the DMD Gene Causes X-Linked Muscular Dystrophy in the Maine Coon Cat

Evy Beckers1, Ine Cornelis2, Sofie F M Bhatti2

  • 1Department of Veterinary and Biosciences, Faculty of Veterinary Medicine, Ghent University, B-9820 Merelbeke, Belgium.

Animals : an Open Access Journal From MDPI
|November 11, 2022
PubMed

Insights

Feline dystrophin-deficient muscular dystrophy (ddMD) is a fatal genetic disorder. This study identifies a novel DMD gene variant causing ddMD in Maine Coon cats, leading to progressive muscle degeneration.

Area of Science:

  • Genetics
  • Veterinary Medicine
  • Molecular Biology

Background:

  • Feline dystrophin-deficient muscular dystrophy (ddMD) is a severe inherited neuromuscular disorder.
  • The genetic basis of ddMD in cats is not fully understood, with only two causal variants previously identified.
  • This study investigates a potential new genetic cause of ddMD in a specific feline breed.

Purpose of the Study:

  • To identify the genetic cause of muscular dystrophy in two affected Maine Coon cats.
  • To characterize the clinical and pathological features of this novel ddMD presentation.
  • To confirm the identified genetic variant as the causative mutation for ddMD in this pedigree.

Main Methods:

  • Clinical examination, histopathology, and immunofluorescent staining of muscle tissue.
  • Electromyography and serum creatine kinase activity measurement.
  • DMD mRNA sequencing and pedigree analysis to identify and confirm the causal variant.

Main Results:

  • Affected cats exhibited muscular hypertrophy, growth retardation, and elevated creatine kinase levels.
  • Histopathology and immunohistochemistry confirmed the absence of dystrophin, indicative of ddMD.
  • A novel nonsense variant (c.1180C > T) in the feline DMD gene was identified and confirmed as the cause of ddMD in this breed.

Conclusions:

  • Dystrophin-deficient muscular dystrophy is described for the first time in the Maine Coon breed.
  • The identified DMD gene variant (c.1180C > T) is the causal mutation for ddMD in these cats.
  • This finding expands the known genetic causes of muscular dystrophy in felines.
Keywords:
Duchenne muscular dystrophydisease-causing varianthypertrophic feline muscular dystrophynonsense

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