University Library
  • Login
A gateway to Melbourne's research publications
Minerva Access is the University's Institutional Repository. It aims to collect, preserve, and showcase the intellectual output of staff and students of the University of Melbourne for a global audience.
View Item 
  • Minerva Access
  • Medicine, Dentistry & Health Sciences
  • Melbourne Medical School
  • Ophthalmology (Eye & Ear Hospital)
  • Ophthalmology (Eye & Ear Hospital) - Research Publications
  • View Item
  • Minerva Access
  • Medicine, Dentistry & Health Sciences
  • Melbourne Medical School
  • Ophthalmology (Eye & Ear Hospital)
  • Ophthalmology (Eye & Ear Hospital) - Research Publications
  • View Item
JavaScript is disabled for your browser. Some features of this site may not work without it.

    The genetic profile of Leber congenital amaurosis in an Australian cohort

    Thumbnail
    Download
    Published version (646.7Kb)

    Citations
    Scopus
    Web of Science
    Altmetric
    17
    14
    Author
    Thompson, JA; De Roach, JN; McLaren, TL; Montgomery, HE; Hoffmann, LH; Campbell, IR; Chen, FK; Mackey, DA; Lamey, TM
    Date
    2017-11-01
    Source Title
    Molecular Genetics and Genomic Medicine
    Publisher
    WILEY
    University of Melbourne Author/s
    Mackey, David
    Affiliation
    Ophthalmology (Eye & Ear Hospital)
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Thompson, J. A., De Roach, J. N., McLaren, T. L., Montgomery, H. E., Hoffmann, L. H., Campbell, I. R., Chen, F. K., Mackey, D. A. & Lamey, T. M. (2017). The genetic profile of Leber congenital amaurosis in an Australian cohort. MOLECULAR GENETICS & GENOMIC MEDICINE, 5 (6), pp.652-667. https://doi.org/10.1002/mgg3.321.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/255947
    DOI
    10.1002/mgg3.321
    Abstract
    BACKGROUND: Leber congenital amaurosis (LCA) is a severe visual impairment responsible for infantile blindness, representing ~5% of all inherited retinal dystrophies. LCA encompasses a group of heterogeneous disorders, with 24 genes currently implicated in pathogenesis. Such clinical and genetic heterogeneity poses great challenges for treatment, with personalized therapies anticipated to be the best treatment candidates. Unraveling the individual genetic etiology of disease is a prerequisite for personalized therapies, and could identify potential treatment candidates, inform patient management, and discriminate syndromic forms of disease. METHODS: We have genetically analyzed 45 affected and 82 unaffected individuals from 34 unrelated LCA pedigrees using predominantly next-generation sequencing and Array CGH technology. RESULTS: We present the molecular findings for an Australian LCA cohort, sourced from the Australian Inherited Retinal Disease Registry & DNA Bank. CEP290 and GUCY2D mutations, each represent 19% of unrelated LCA cases, followed by NMNAT1 (12%). Genetic subtypes were consistent with other reports, and were resolved in 90% of this cohort. CONCLUSION: The high resolution rate achieved, equivalent to recent findings using whole exome/genome sequencing, reflects the progression from hypothesis (LCA Panel) to non-hypothesis (RD Panel) testing and, coupled with Array CGH analysis, is a highly effective first-tier test for LCA.

    Export Reference in RIS Format     

    Endnote

    • Click on "Export Reference in RIS Format" and choose "open with... Endnote".

    Refworks

    • Click on "Export Reference in RIS Format". Login to Refworks, go to References => Import References


    Collections
    • Minerva Elements Records [53039]
    • Ophthalmology (Eye & Ear Hospital) - Research Publications [599]
    Minerva AccessDepositing Your Work (for University of Melbourne Staff and Students)NewsFAQs

    BrowseCommunities & CollectionsBy Issue DateAuthorsTitlesSubjectsThis CollectionBy Issue DateAuthorsTitlesSubjects
    My AccountLoginRegister
    StatisticsMost Popular ItemsStatistics by CountryMost Popular Authors