{"title":"Identification of a novel frameshift mutation in the DMD gene as the cause of muscular dystrophy in a Norfolk terrier dog.","authors":"Christopher A Jenkins, Oliver P Forman","doi":"10.1186/s40575-015-0019-4","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Findings: </strong>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.</p><p><strong>Conclusions: </strong>The finding represents a novel mutation causing DD-MD in the dog.</p>","PeriodicalId":91060,"journal":{"name":"Canine genetics and epidemiology","volume":"2 ","pages":"7"},"PeriodicalIF":0.0000,"publicationDate":"2015-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s40575-015-0019-4","citationCount":"13","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Canine genetics and epidemiology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/s40575-015-0019-4","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2015/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 13
Abstract
Background: 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.
Findings: 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.
Conclusions: The finding represents a novel mutation causing DD-MD in the dog.
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