Abstract
BackgroundA 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.FindingsExon 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.ConclusionsThe finding represents a novel mutation causing DD-MD in the dog.Electronic supplementary materialThe online version of this article (doi:10.1186/s40575-015-0019-4) contains supplementary material, which is available to authorized users.
Highlights
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
The aim of this study was to identify the causal mutation for the Norfolk terrier lacking functional dystrophin protein
Due to the large size of the dystrophin gene we focused our investigation on the 79 coding exons of Duchenne Muscular Dystrophy (DMD)
Summary
The aim of this study was to identify the genetic cause of the disease in this dog. The coding exons of the dystrophin gene (DMD) were sequenced, in both the affected dog and its mother. A variant in exon 22 was identified which was predicted to result in the production of a truncated dystrophin protein. The lack of functional dystrophin in the affected dog was confirmed through expression analysis.
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