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
  • Paediatrics (RCH)
  • Paediatrics (RCH) - Research Publications
  • View Item
  • Minerva Access
  • Medicine, Dentistry & Health Sciences
  • Melbourne Medical School
  • Paediatrics (RCH)
  • Paediatrics (RCH) - Research Publications
  • View Item
JavaScript is disabled for your browser. Some features of this site may not work without it.

    TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.

    Thumbnail
    Download
    Published version (1.252Mb)

    Citations
    Scopus
    Web of Science
    Altmetric
    5
    3
    Author
    Spitali, P; Zaharieva, I; Bohringer, S; Hiller, M; Chaouch, A; Roos, A; Scotton, C; Claustres, M; Bello, L; McDonald, CM; ...
    Date
    2020-06
    Source Title
    European Journal of Human Genetics
    Publisher
    Springer Science and Business Media LLC
    University of Melbourne Author/s
    Kornberg, Andrew; Ryan, Monique; North, Kathryn
    Affiliation
    Paediatrics (RCH)
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Spitali, P., Zaharieva, I., Bohringer, S., Hiller, M., Chaouch, A., Roos, A., Scotton, C., Claustres, M., Bello, L., McDonald, C. M., Hoffman, E. P., CINRG Investigators, Koeks, Z., Eka Suchiman, H., Cirak, S., Scoto, M., Reza, M., 't Hoen, P. A. C., Niks, E. H. ,... Aartsma-Rus, A. (2020). TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.. Eur J Hum Genet, 28 (6), pp.815-825. https://doi.org/10.1038/s41431-019-0563-6.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/251974
    DOI
    10.1038/s41431-019-0563-6
    Open Access at PMC
    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253478
    Abstract
    Duchenne muscular dystrophy (DMD) is caused by pathogenic variants in the DMD gene leading to the lack of dystrophin. Variability in the disease course suggests that other factors influence disease progression. With this study we aimed to identify genetic factors that may account for some of the variability in the clinical presentation. We compared whole-exome sequencing (WES) data in 27 DMD patients with extreme phenotypes to identify candidate variants that could affect disease progression. Validation of the candidate SNPs was performed in two independent cohorts including 301 (BIO-NMD cohort) and 109 (CINRG cohort of European ancestry) DMD patients, respectively. Variants in the Tctex1 domain containing 1 (TCTEX1D1) gene on chromosome 1 were associated with age of ambulation loss. The minor alleles of two independent variants, known to affect TCTEX1D1 coding sequence and induce skipping of its exon 4, were associated with earlier loss of ambulation. Our data show that disease progression of DMD is affected by a new locus on chromosome 1 and demonstrate the possibility to identify genetic modifiers in rare diseases by studying WES data in patients with extreme phenotypes followed by multiple layers of validation.

    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 [45770]
    • Paediatrics (RCH) - Research Publications [1852]
    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