Curtin University Homepage
  • Library
  • Help
    • Admin

    espace - Curtin’s institutional repository

    JavaScript is disabled for your browser. Some features of this site may not work without it.
    View Item 
    • espace Home
    • espace
    • Curtin Research Publications
    • View Item
    • espace Home
    • espace
    • Curtin Research Publications
    • View Item

    A review of structural brain abnormalities in Pallister-Killian syndrome

    Access Status
    Fulltext not available
    Authors
    Poulton, C.
    Baynam, Gareth
    Yates, C.
    Alinejad-Rokny, H.
    Williams, S.
    Wright, H.
    Woodward, K.
    Sivamoorthy, S.
    Peverall, J.
    Shipman, P.
    Ravine, D.
    Beilby, J.
    Heng, Julian
    Date
    2018
    Type
    Journal Article
    
    Metadata
    Show full item record
    Citation
    Poulton, C. and Baynam, G. and Yates, C. and Alinejad-Rokny, H. and Williams, S. and Wright, H. and Woodward, K. et al. 2018. A review of structural brain abnormalities in Pallister-Killian syndrome. Molecular Genetics And Genomic Medicine. 6 (1): pp. 92-98.
    Source Title
    Molecular Genetics And Genomic Medicine
    DOI
    10.1002/mgg3.351
    ISSN
    2324-9269
    School
    School of Earth and Planetary Sciences (EPS)
    URI
    http://hdl.handle.net/20.500.11937/73070
    Collection
    • Curtin Research Publications
    Abstract

    © 2017 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. Background: Pallister-Killian syndrome (PKS) is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associated with neurological defects. Methods: We describe two patients with PKS, one of whom has bilateral perisylvian polymicrogyria (PMG), the other with macrocephaly, enlarged lateral ventricles and hypogenesis of the corpus callosum. We have also summarized the current literature describing brain abnormalities in PKS. Results: We reviewed available cases with intracranial scans (n = 93) and found a strong association between PKS and structural brain abnormalities (77.41%; 72/93). Notably, ventricular abnormalities (45.83%; 33/72), abnormalities of the corpus callosum (25.00%; 18/72) and cerebral atrophy (29.17%; 21/72) were the most frequently reported, while macrocephaly (12.5%; 9/72) and PMG (4.17%; 3/72) were less frequent. To further understand how 12p genes might be relevant to brain development, we identified 63 genes which are enriched in the nervous system. These genes display distinct temporal as well as region-specific expression in the brain, suggesting specific roles in neurodevelopment and disease. Finally, we utilized these data to define minimal critical regions on 12p and their constituent genes associated with atrophy, abnormalities of the corpus callosum, and macrocephaly in PKS. Conclusion: Our study reinforces the association between brain abnormalities and PKS, and documents a diverse neurogenetic basis for structural brain abnormalities and impaired function in children diagnosed with this rare disorder.

    Related items

    Showing items related by title, author, creator and subject.

    • Reduced cerebellar diameter in very preterm infants with abnormal general movements
      Spittle, A.; Doyle, L.; Anderson, P.; Inder, T.; Lee, K.; Boyd, Roslyn; Cheong, J. (2010)
      Background: Abnormal General Movements (GMs) early in life are predictive of later neuromotor deficits and are related to white matter abnormalities on magnetic resonance imaging (MRI). However, other structural correlates ...
    • Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance
      Woodward, K.; Stampalia, J.; Vanyai, H.; Rijhumal, H.; Potts, K.; Taylor, F.; Peverall, J.; Grumball, T.; Sivamoorthy, S.; Alinejad-Rokny, H.; Wray, J.; Whitehouse, A.; Nagarajan, L.; Scurlock, J.; Afchani, S.; Edwards, M.; Murch, A.; Beilby, J.; Baynam, G.; Kiraly-Borri, C.; McKenzie, F.; Heng, Julian (2019)
      Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. Background: Chromosome 22q11.2 is susceptible to genomic rearrangements and the most frequently reported involve deletions and duplications ...
    • Brain transcriptome perturbations in the transferrin receptor 2 mutant mouse support the case for brain changes in iron loading disorders, including effects relating to long-term depression and long-term potentiation
      Acikyol, B.; Graham, Ross; Trinder, D.; House, M.; Olynyk, John; Scott, R.; Milward, E; Johnstone, D. (2013)
      Iron abnormalities within the brain are associated with several rare but severe neurodegenerative conditions. There is growing evidence that more common systemic iron loading disorders such as hemochromatosis can also ...
    Advanced search

    Browse

    Communities & CollectionsIssue DateAuthorTitleSubjectDocument TypeThis CollectionIssue DateAuthorTitleSubjectDocument Type

    My Account

    Admin

    Statistics

    Most Popular ItemsStatistics by CountryMost Popular Authors

    Follow Curtin

    • 
    • 
    • 
    • 
    • 

    CRICOS Provider Code: 00301JABN: 99 143 842 569TEQSA: PRV12158

    Copyright | Disclaimer | Privacy statement | Accessibility

    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.