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

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    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
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    Issue Date
    2016-11-17
    Keywords
    HEART DISEASE
    GENETICS
    
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    Citation
    BMC Medical Genetics. 2016 Nov 17;17(1):83
    URI
    http://dx.doi.org/10.1186/s12881-016-0347-6
    http://hdl.handle.net/10147/620934
    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.
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