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    Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients

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    URI
    http://hdl.handle.net/11287/593825
    Author
    Broadbent, H.
    Farran, E. K.
    Chin, E.
    Metcalfe, K.
    Tassabehji, M.
    Turnpenny, Peter D.
    Sansbury, Francis H.
    Meaburn, E.
    Karmiloff-Smith, A.
    Date
    2014-07-01
    Journal
    Journal of neurodevelopmental disorders
    Type
    Journal Article
    Publisher
    BioMed Central
    DOI
    10.1186/1866-1955-6-18
    Metadata
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    Abstract
    BACKGROUND: Williams syndrome (WS) is a rare neurodevelopmental disorder arising from a hemizygotic deletion of approximately 27 genes on chromosome 7, at locus 7q11.23. WS is characterised by an uneven cognitive profile, with serious deficits in visuospatial tasks in comparison to relatively proficient performance in some other cognitive domains such as language and face processing. Individuals with partial genetic deletions within the WS critical region (WSCR) have provided insights into the contribution of specific genes to this complex phenotype. However, the combinatorial effects of different genes remain elusive. METHODS: WE REPORT ON VISUOSPATIAL COGNITION IN TWO INDIVIDUALS WITH CONTRASTING PARTIAL DELETIONS IN THE WSCR: one female (HR), aged 11 years 9 months, with haploinsufficiency for 24 of the WS genes (up to GTF2IRD1), and one male (JB), aged 14 years 2 months, with the three most telomeric genes within the WSCR deleted, or partially deleted. RESULTS: Our in-depth phenotyping of the visuospatial domain from table-top psychometric, and small- and large-scale experimental tasks reveal a profile in HR in line with typically developing controls, albeit with some atypical features. These data are contrasted with patient JB's atypical profile of strengths and weaknesses across the visuospatial domain, as well as with more substantial visuospatial deficits in individuals with the full WS deletion. CONCLUSIONS: Our findings point to the contribution of specific genes to spatial processing difficulties associated with WS, highlighting the multifaceted nature of spatial cognition and the divergent effects of genetic deletions within the WSCR on different components of visuospatial ability. The importance of general transcription factors at the telomeric end of the WSCR, and their combinatorial effects on the WS visuospatial phenotype are also discussed.
    Citation
    J Neurodev Disord. 2014;6(1):18.
    Publisher URL
    http://jneurodevdisorders.biomedcentral.com/articles/10.1186/1866-1955-6-18
    Note
    This article is available via Open Access. Please click on the 'Additional Link' above to access the full-text.
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    • 2014 RD&E publications
    • Clinical Genetics (Peninsula Genetics)

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