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    A Germline MTOR Mutation in Aboriginal Australian Siblings with Intellectual Disability, Dysmorphism, Macrocephaly, and Small Thoraces

    Access Status
    Fulltext not available
    Authors
    Baynam, G.
    Overkov, A.
    Davis, M.
    Mina, K.
    Schofield, L.
    Allcock, R.
    Laing, N.
    Cook, M.
    Dawkins, Hugh
    Goldblatt, J.
    Date
    2015
    Type
    Journal Article
    
    Metadata
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    Citation
    Baynam, G. and Overkov, A. and Davis, M. and Mina, K. and Schofield, L. and Allcock, R. and Laing, N. et al. 2015. A Germline MTOR Mutation in Aboriginal Australian Siblings with Intellectual Disability, Dysmorphism, Macrocephaly, and Small Thoraces. American Journal of Medical Genetics. Part A. 167 (7) : pp. 1659-1667.
    Source Title
    American Journal of Medical Genetics. Part A
    DOI
    10.1002/ajmg.a.37070
    ISSN
    1552-4825
    School
    Centre for Population Health Research
    URI
    http://hdl.handle.net/20.500.11937/3184
    Collection
    • Curtin Research Publications
    Abstract

    We report on three Aboriginal Australian siblings with a unique phenotype which overlaps with known megalencephaly syndromes and RASopathies, including Costello syndrome. A gain-of-function mutation in MTOR was identified and represents the first reported human condition due to a germline, familial MTOR mutation. We describe the findings in this family to highlight that (i) the path to determination of pathogenicity was confounded by the lack of genomic reference data for Australian Aboriginals and that (ii) the disease biology, functional analyses in this family, and studies on the tuberous sclerosis complex support consideration of an mTOR inhibitor as a therapeutic agent.

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