About: Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies

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About: Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies Goto Sponge NotDistinct Permalink

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type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies
Creator	Fletcher, Sue Krishnaswarmy, Sudarsan Pinniger, Gavin Adams, Abbie Aung-Htut, May Toh, Charles Wilton, Steve Wong, Brenda Yon, Zhi
Source	PMC
abstract	Duchenne and Becker muscular dystrophy severity depends upon the nature and location of the DMD gene lesion and generally correlates with the dystrophin open reading frame. However, there are striking exceptions where an in-frame genomic deletion leads to severe pathology or protein-truncating mutations (nonsense or frame-shifting indels) manifest as mild disease. Exceptions to the dystrophin reading frame rule are usually resolved after molecular diagnosis on muscle RNA. We report a moderate/severe Becker muscular dystrophy patient with an in-frame genomic deletion of DMD exon 5. This mutation has been reported by others as resulting in Duchenne or Intermediate muscular dystrophy, and the loss of this in-frame exon in one patient led to multiple splicing events, including omission of exon 6, that disrupts the open reading frame and is consistent with a severe phenotype. The patient described has a deletion of dystrophin exon 5 that does not compromise recognition of exon 6, and although the deletion does not disrupt the reading frame, his clinical presentation is more severe than would be expected for classical Becker muscular dystrophy. We suggest that the dystrophin isoform lacking the actin-binding sequence encoded by exon 5 is compromised, reflected by the phenotype resulting from induction of this dystrophin isoform in mouse muscle in vivo. Hence, exon skipping to address DMD-causing mutations within DMD exon 5 may not yield an isoform that confers marked clinical benefit. Additional studies will be required to determine whether multi-exon skipping strategies could yield more functional dystrophin isoforms, since some BMD patients with larger in-frame deletions in this region have been reported with mild phenotypes.
has issue date	2016-01-08(xsd:dateTime)
bibo:doi	10.1371/journal.pone.0145620
bibo:pmid	26745801
has license	cc-by
sha1sum (hex)	593333395be3bd94387b4e273cc8ed13b398d5c0
schema:url	https://doi.org/10.1371/journal.pone.0145620
resource representing a document's title	Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies
has PubMed Central identifier	PMC4706350
has PubMed identifier	26745801
schema:publication	PLoS One
resource representing a document's body	covid:593333395be3bd94387b4e273cc8ed13b398d5c0#body_text
is schema:about of	named entity 'GUIDANCE' named entity 'reading frame' named entity 'marked' named entity 'exon' named entity 'isoform' named entity 'muscular dystrophy' named entity 'severe' named entity 'isoform' named entity 'deletion' named entity 'dystrophin' named entity 'Exon' named entity 'STUDIES' named entity 'MULTIPLE' named entity 'BECKER MUSCULAR DYSTROPHY' named entity 'SEVERE' named entity 'EXON' named entity 'GENOMIC' named entity 'PATIENTS' named entity 'SUGGEST' named entity 'MUSCULAR DYSTROPHY' named entity 'LOCATION' named entity 'FRAME' named entity 'IN VIVO' named entity 'SEVERE PHENOTYPE' named entity 'RESULTING IN' named entity 'MOUSE MUSCLE' named entity 'COMPROMISE' named entity 'BMD' named entity 'RNA' named entity 'PATIENT' named entity 'SPLICING' named entity 'MANIFEST' named entity 'CAUSING' named entity 'MUTATIONS' named entity 'REPORTED BY' named entity 'ISOFORMS' named entity 'MILD' named entity 'CLASSICAL' named entity 'DOES NOT' named entity 'INFRAME' named entity 'LOSS OF' named entity 'ACTIN' named entity 'INCLUDING' named entity 'LEADS' named entity 'DUCHENNE' named entity 'OPEN READING FRAME' named entity 'REQUIRED' named entity 'ADDRESS' named entity 'DELETION' named entity 'FRAME' named entity 'EXON SKIPPING' named entity 'DYSTROPHIN' named entity 'MODERATE' named entity 'FUNCTIONAL' named entity 'MULTI' named entity 'INDUCTION' named entity 'MUSCLE' named entity 'RULE' named entity 'INTERMEDIATE' named entity 'LESION' named entity 'BINDING' named entity 'REGION' named entity 'MOLECULAR DIAGNOSIS' named entity 'NATURE' named entity 'MARKED' named entity 'REFLECTED' named entity 'DMD GENE' named entity 'EXON SKIPPING' named entity 'PATHOLOGY' named entity 'CLINICAL BENEFIT' named entity 'RESULTING FROM' named entity 'LED' named entity 'EXON'

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