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    Silver Russel syndrome in an Aboriginal patient from Australia

    Access Status
    Fulltext not available
    Authors
    Poulton, C.
    Azmanov, D.
    Atkinson, V.
    Beilby, J.
    Ewans, L.
    Gration, D.
    Dreyer, L.
    Shetty, V.
    Peake, C.
    McCormack, E.
    Palmer, Richard
    Lewis, B.
    Dawkins, H.
    Broley, S.
    Baynam, G.
    Date
    2018
    Type
    Journal Article
    
    Metadata
    Show full item record
    Citation
    Poulton, C. and Azmanov, D. and Atkinson, V. and Beilby, J. and Ewans, L. and Gration, D. and Dreyer, L. et al. 2018. Silver Russel syndrome in an aboriginal patient from Australia. American Journal of Medical Genetics, Part A. 176 (12): pp. 2561-2563.
    Source Title
    American Journal of Medical Genetics, Part A
    DOI
    10.1002/ajmg.a.40502
    ISSN
    1552-4825
    Faculty
    Faculty of Health Sciences
    School
    Curtin School of Allied Health
    URI
    http://hdl.handle.net/20.500.11937/83805
    Collection
    • Curtin Research Publications
    Abstract

    Silver-Russell syndrome (SRS OMIM 180860) is a rare, albeit well-recognized disorder characterized by severe intrauterine and postnatal growth retardation. It remains a clinical diagnosis with a molecular cause identifiable in approximately 60%–70% of patients. We report a 4-year-old Australian Aboriginal girl who was born at 32 weeks gestation with features strongly suggestive of SRS, after extensive investigation she was referred to our undiagnosed disease program (UDP). Genomic sequencing was performed which identified a heterozygous splice site variant in IGF2 which is predicted to be pathogenic by in-silico studies, paternal allelic origin, de novo status, and RNA studies on fibroblasts. We compare clinical findings with reported patients to add to the knowledge base on IGF2 variants and to promote the engagement of other Australian Aboriginal families in genomic medicine.

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    Curtin would like to pay respect to the Aboriginal and Torres Strait Islander members of our community by acknowledging the traditional owners of the land on which the Perth campus is located, the Whadjuk people of the Nyungar Nation; and on our Kalgoorlie campus, the Wongutha people of the North-Eastern Goldfields.