Title |
Identification of a novel frameshift mutation in the DMD gene as the cause of muscular dystrophy in a Norfolk terrier dog
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Published in |
Canine Medicine and Genetics, May 2015
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DOI | 10.1186/s40575-015-0019-4 |
Pubmed ID | |
Authors |
Christopher A Jenkins, Oliver P Forman |
Abstract |
A Norfolk terrier was referred to the Animal Health Trust neurology department with suspected dystrophin-deficient muscular dystrophy (DD-MD), which was confirmed by clinical workup and immunohistochemistry. Exon resequencing of the canine Duchenne Muscular Dystrophy (DMD) gene was undertaken to screen for potential disease causing mutations. The sequence data generated from all coding DMD exons revealed a 1 bp deletion in exon 22, causing a frameshift and premature termination of the coding sequence. Gene expression analysis indicated reduced levels of dystrophin transcript in the DD-MD case and western blot confirmed the absence of full length protein. The finding represents a novel mutation causing DD-MD in the dog. |
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Geographical breakdown
Country | Count | As % |
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United Kingdom | 2 | 33% |
United States | 1 | 17% |
Japan | 1 | 17% |
Unknown | 2 | 33% |
Demographic breakdown
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Members of the public | 5 | 83% |
Science communicators (journalists, bloggers, editors) | 1 | 17% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 12 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 4 | 33% |
Other | 3 | 25% |
Lecturer > Senior Lecturer | 2 | 17% |
Student > Master | 1 | 8% |
Unknown | 2 | 17% |
Readers by discipline | Count | As % |
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Agricultural and Biological Sciences | 4 | 33% |
Biochemistry, Genetics and Molecular Biology | 3 | 25% |
Veterinary Science and Veterinary Medicine | 2 | 17% |
Medicine and Dentistry | 1 | 8% |
Unknown | 2 | 17% |