• Login
    View Item 
    •   Home
    • Other Irish Health Organisations
    • Publications
    • View Item
    •   Home
    • Other Irish Health Organisations
    • Publications
    • View Item
    JavaScript is disabled for your browser. Some features of this site may not work without it.

    Map of Submissions

    Home Page
    UlsterN
    4995
    UlsterS
    4995
    Connacht
    1672
    Munster
    54
    Leinster
    456

    Browse

    All of Lenus, The Irish Health RepositoryCommunitiesTitleAuthorsDate publishedSubjectsThis CollectionTitleAuthorsDate publishedSubjects

    My Account

    LoginRegister

    About

    About LenusDirectory of Open Access JournalsOpen Access Publishing GuideNational Health Library & Knowledge ServiceGuide to Publishers' PoliciesFAQsTerms and ConditionsVision StatementORCID Unique identifiers for ResearchersHSE position statement on Open AccessNational Open Research Forum (NORF)Zenodo (European Open Research repository)

    Statistics

    Most Popular ItemsStatistics by CountryMost Popular Authors

    Mutation of a common amino acid in NKX2.5 results in dilated cardiomyopathy in two large families

    • CSV
    • RefMan
    • EndNote
    • BibTex
    • RefWorks
    Thumbnail
    Name:
    12881_2016_Article_347.pdf
    Size:
    734.4Kb
    Format:
    PDF
    Download
    Authors
    Hanley, Alan
    Walsh, Katie A
    Joyce, Caroline
    McLellan, Michael A
    Clauss, Sebastian
    Hagen, Amaya
    Shea, Marisa A
    Tucker, Nathan R
    Lin, Honghuang
    Fahy, Gerard J
    Ellinor, Patrick T
    Show allShow less
    Issue Date
    2016-11-17
    Keywords
    CARDIOVASCULAR DISEASE
    CARDIOLOGY
    Local subject classification
    SUDDEN CARDIAC DEATH
    ARRHYTHMIA
    CARDIOMYOPATHY
    NEXT GENERATION SEQUENCING
    
    Metadata
    Show full item record
    Citation
    BMC Medical Genetics. 2016 Nov 17;17(1):83
    Publisher
    BioMed Central
    URI
    http://dx.doi.org/10.1186/s12881-016-0347-6
    http://hdl.handle.net/10147/620928
    Abstract
    Abstract Background The genetic basis for dilated cardiomyopathy (DCM) can be difficult to determine, particularly in familial cases with complex phenotypes. Next generation sequencing may be useful in the management of such cases. Methods We report two large families with pleiotropic inherited cardiomyopathy. In addition to DCM, the phenotypes included atrial and ventricular septal defects, cardiac arrhythmia and sudden death. Probands underwent whole exome sequencing to identify potentially causative variants. Results Each whole exome sequence yielded over 18,000 variants. We identified distinct mutations affecting a common amino acid in NKX2.5. Segregation analysis of the families support the pathogenic role of these variants. Conclusion Our study emphasizes the utility of next generation sequencing in identifying causative mutations in complex inherited cardiac disease. We also report a novel pathogenic NKX2.5 mutation.
    Item Type
    Article
    Language
    en
    Collections
    Publications

    entitlement

     
    Health Library Ireland | Health Service Executive | Jervis House, Jervis Street | Republic of Ireland | Eircode: D01 W596
    lenus@hse.ie | Tel: +353-1-7786275
    DSpace software copyright © 2002-2017  DuraSpace
    Contact Us | Disclaimer
    Open Repository is a service operated by 
    Atmire NV
     

    Export search results

    The export option will allow you to export the current search results of the entered query to a file. Different formats are available for download. To export the items, click on the button corresponding with the preferred download format.

    By default, clicking on the export buttons will result in a download of the allowed maximum amount of items.

    To select a subset of the search results, click "Selective Export" button and make a selection of the items you want to export. The amount of items that can be exported at once is similarly restricted as the full export.

    After making a selection, click one of the export format buttons. The amount of items that will be exported is indicated in the bubble next to export format.