ArticleMammalian genome : official journal of the International Mammalian Genome Society2017
Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 26 citations in OpenAlex.
- Dystrophin-Deficient Muscular Dystrophy in a Jack Russell Terrier With a Large Deletion in the Canine DMD Gene.Veterinary medicine and science · 2026Article
- Current Classification of Canine Muscular Dystrophies and Identification of New Variants.Genes · 2023Article
- Dystrophin (International journal of molecular sciences · 2023Article
- CRISPR applications for Duchenne muscular dystrophy: From animal models to potential therapies.WIREs mechanisms of disease · 2023Review
- A Nonsense Variant in theAnimals : an open access journal from MDPI · 2022Article
- Dystrophin-deficient muscular dystrophy in a Toy Poodle with a single base pair insertion in exon 45 of the Duchenne muscular dystrophy gene.The Journal of veterinary medical science · 2022Article
- Development of outcome measures according to dystrophic phenotypes in canine X-linked muscular dystrophy in Japan.Experimental animals · 2021Article
- Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D.Skeletal muscle · 2021Article
- Article
- X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation.Skeletal muscle · 2020Article
- What is the level of dystrophin expression required for effective therapy of Duchenne muscular dystrophy?Journal of muscle research and cell motility · 2019Review
- The Dog Model in the Spotlight: Legacy of a Trustful Cooperation.Journal of neuromuscular diseases · 2019Article
- A novel canine model for Duchenne muscular dystrophy (DMD): single nucleotide deletion in DMD gene exon 20.Skeletal muscle · 2018Article
- Clinical and genetic characterisation of dystrophin-deficient muscular dystrophy in a family of Miniature Poodle dogs.PloS one · 2018Article
- Expression profiling of disease progression in canine model of Duchenne muscular dystrophy.PloS one · 2018Article
- Prenatal diagnosis for a Chinese family with a de novo DMD gene mutation: A case report.Medicine · 2017Article
- Changes in Muscle Metabolism are Associated with Phenotypic Variability in Golden Retriever Muscular Dystrophy.The Yale journal of biology and medicine · 2017Article
- Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers.Skeletal muscle · 2017Article
- The golden retriever model of Duchenne muscular dystrophy.Skeletal muscle · 2017Review
- Precision medicine using whole genome sequencing identifies a novel dystrophin (DMD) variant for X-linked muscular dystrophy in a cat.Journal of veterinary internal medicineArticle
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Authors and funding
10 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dystrophin is a key cytoskeletal protein coded by the Duchenne muscular dystrophy (DMD) gene located on the X-chromosome. Truncating mutations in the DMD gene cause loss of dystrophin and the classical DMD clinical syndrome. Spontaneous DMD gene mutations and associated phenotypes occur in several other species. The mdx mouse model and the golden retriever muscular dystrophy (GRMD) canine model have been used extensively to study DMD disease pathogenesis and show efficacy and side effects of putative treatments. Certain DMD gene mutations in high-risk, the so-called hot spot areas can be particularly helpful in modeling molecular therapies. Identification of specific mutations has been greatly enhanced by new genomic methods. Whole genome, next generation sequencing (WGS) has been recently used to define DMD patient mutations, but has not been used in dystrophic dogs. A dystrophin-deficient Cavalier King Charles Spaniel (CKCS) dog was evaluated at the functional, histopathological, biochemical, and molecular level. The affected dog's phenotype was compared to the previously reported canine dystrophinopathies. WGS was then used to detect a 7 base pair deletion in DMD exon 42 (c.6051-6057delTCTCAAT mRNA), predicting a frameshift in gene transcription and truncation of dystrophin protein translation. The deletion was confirmed with conventional PCR and Sanger sequencing. This mutation is in a secondary DMD gene hotspot area distinct from the one identified earlier at the 5' donor splice site of intron 50 in the CKCS breed.
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