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A nonsense variant in the DMD gene causes X-linked muscular dystrophy in the Maine coon cat

Evy Beckers (UGent) , Ine Cornelis (UGent) , Sofie Bhatti (UGent) , Pascale Smets (UGent) , G. Diane Shelton, Ling T. Guo, Luc Peelman (UGent) and Bart Broeckx (UGent)
(2022) ANIMALS. 12(21).
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Abstract
Feline dystrophin-deficient muscular dystrophy (ddMD) is a fatal disease characterized by progressive weakness and degeneration of skeletal muscles and is caused by variants in the DMD gene. To date, only two feline causal variants have been identified. This study reports two cases of male Maine coon siblings that presented with muscular hypertrophy, growth retardation, weight loss, and vomiting. (2) Both cats were clinically examined and histopathology and immunofluorescent staining of the affected muscle was performed. DMD mRNA was sequenced to identify putative causal variants. (3) Both cats showed a significant increase in serum creatine kinase activity. Electromyography and histopathological examination of the muscle samples revealed abnormalities consistent with a dystrophic phenotype. Immunohistochemical testing revealed the absence of dystrophin, confirming the diagnosis of dystrophin-deficient muscular dystrophy. mRNA sequencing revealed a nonsense variant in exon 11 of the feline DMD gene, NC_058386.1 (XM_045050794.1): c.1180C>T (p.(Arg394*)), which results in the loss of the majority of the dystrophin protein. Perfect X-linked segregation of the variant was established in the pedigree. (4) ddMD was described for the first time in the Maine coon and the c.1180C>T variant was confirmed as the causal variant.
Keywords
hypertrophic feline muscular dystrophy, Duchenne muscular dystrophy, disease-causing variant, nonsense, MUSCLE, ASSOCIATION, EXPRESSION, DELETION

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MLA
Beckers, Evy, et al. “A Nonsense Variant in the DMD Gene Causes X-Linked Muscular Dystrophy in the Maine Coon Cat.” ANIMALS, vol. 12, no. 21, 2022, doi:10.3390/ani12212928.
APA
Beckers, E., Cornelis, I., Bhatti, S., Smets, P., Shelton, G. D., Guo, L. T., … Broeckx, B. (2022). A nonsense variant in the DMD gene causes X-linked muscular dystrophy in the Maine coon cat. ANIMALS, 12(21). https://doi.org/10.3390/ani12212928
Chicago author-date
Beckers, Evy, Ine Cornelis, Sofie Bhatti, Pascale Smets, G. Diane Shelton, Ling T. Guo, Luc Peelman, and Bart Broeckx. 2022. “A Nonsense Variant in the DMD Gene Causes X-Linked Muscular Dystrophy in the Maine Coon Cat.” ANIMALS 12 (21). https://doi.org/10.3390/ani12212928.
Chicago author-date (all authors)
Beckers, Evy, Ine Cornelis, Sofie Bhatti, Pascale Smets, G. Diane Shelton, Ling T. Guo, Luc Peelman, and Bart Broeckx. 2022. “A Nonsense Variant in the DMD Gene Causes X-Linked Muscular Dystrophy in the Maine Coon Cat.” ANIMALS 12 (21). doi:10.3390/ani12212928.
Vancouver
1.
Beckers E, Cornelis I, Bhatti S, Smets P, Shelton GD, Guo LT, et al. A nonsense variant in the DMD gene causes X-linked muscular dystrophy in the Maine coon cat. ANIMALS. 2022;12(21).
IEEE
[1]
E. Beckers et al., “A nonsense variant in the DMD gene causes X-linked muscular dystrophy in the Maine coon cat,” ANIMALS, vol. 12, no. 21, 2022.
@article{8771663,
  abstract     = {{Feline dystrophin-deficient muscular dystrophy (ddMD) is a fatal disease characterized by progressive weakness and degeneration of skeletal muscles and is caused by variants in the DMD gene. To date, only two feline causal variants have been identified. This study reports two cases of male Maine coon siblings that presented with muscular hypertrophy, growth retardation, weight loss, and vomiting. (2) Both cats were clinically examined and histopathology and immunofluorescent staining of the affected muscle was performed. DMD mRNA was sequenced to identify putative causal variants. (3) Both cats showed a significant increase in serum creatine kinase activity. Electromyography and histopathological examination of the muscle samples revealed abnormalities consistent with a dystrophic phenotype. Immunohistochemical testing revealed the absence of dystrophin, confirming the diagnosis of dystrophin-deficient muscular dystrophy. mRNA sequencing revealed a nonsense variant in exon 11 of the feline DMD gene, NC_058386.1 (XM_045050794.1): c.1180C>T (p.(Arg394*)), which results in the loss of the majority of the dystrophin protein. Perfect X-linked segregation of the variant was established in the pedigree. (4) ddMD was described for the first time in the Maine coon and the c.1180C>T variant was confirmed as the causal variant.}},
  articleno    = {{2928}},
  author       = {{Beckers, Evy and Cornelis, Ine and Bhatti, Sofie and Smets, Pascale and Shelton, G. Diane and Guo, Ling T. and Peelman, Luc and Broeckx, Bart}},
  issn         = {{2076-2615}},
  journal      = {{ANIMALS}},
  keywords     = {{hypertrophic feline muscular dystrophy,Duchenne muscular dystrophy,disease-causing variant,nonsense,MUSCLE,ASSOCIATION,EXPRESSION,DELETION}},
  language     = {{eng}},
  number       = {{21}},
  pages        = {{12}},
  title        = {{A nonsense variant in the DMD gene causes X-linked muscular dystrophy in the Maine coon cat}},
  url          = {{http://dx.doi.org/10.3390/ani12212928}},
  volume       = {{12}},
  year         = {{2022}},
}

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