Williams-Beuren syndrome: A challenge for genotype-phenotype correlations

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    Many human chromosomal abnormality syndromes include specific cognitive and behavioural components. Children with Prader-Willi syndrome lack a paternally derived copy of the proximal long arm of chromosome 15, and eat uncontrollably; in Angelman syndrome lack of a maternal contribution of 15q11-q13 results in absence of speech, frequent smiling and episodes of paroxysmal laughter; deletions on 22q11 can be associated with obsessive behaviour and schizophrenia. The neurodevelopmental disorder Williams-Beuren syndrome (WBS), is caused by a microdeletion at 7q11.23 and provides us with one of the most convincing models of a relationship that links genes with human cognition and behaviour. The hypothesis is that deletion of one or a series of genes causes neurodevelopmental abnormalities that manifest as the fractionation of mental abilities typical of WBS. Detailed molecular characterization of the deletion alongside well-defined cognitive profiling in WBS provides a unique opportunity to investigate the neuromolecular basis of complex cognitive behaviour, and develop integrated approaches to study gene function and genotype-phenotype correlations.
    Original languageEnglish
    Pages (from-to)R229-R237
    JournalHuman Molecular Genetics
    Issue number2
    Publication statusPublished - 15 Oct 2003


    • Animals
    • Chromosomes, Human, Pair 15
    • Chromosomes, Human, Pair 22
    • Chromosomes, Human, Pair 7
    • physiopathology: Cognition Disorders
    • Disease Models, Animal
    • Genomic Imprinting
    • Genotype
    • Humans
    • Mice
    • Phenotype
    • Research Support, Non-U.S. Gov't
    • genetics: Williams Syndrome


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