Williams syndrome: From genotype through to the cognitive phenotype

Dian Donnai, Annette Karmiloff-Smith

    Research output: Contribution to journalArticlepeer-review


    Williams syndrome, due to a contiguous gene deletion at 7q11.23, is associated with a distinctive facial appearance, cardiac abnormalities, infantile hypercalcemia, and growth and developmental retardation. The deletion is approximately 1.5Mb and includes ~17 genes. Large repeats containing genes and pseudogenes flank the deletion breakpoints, and the mutation mechanism commonly appears to be unequal meiotic recombination. Elastin hemizygosity is associated with supravalvular aortic stenosis and other vascular stenoses. LIM Kinase 1 hemizygosity may contribute to the characteristic cognitive profile. The relationship of the other deleted genes to phenotypic features is not known. People with Williams syndrome tend to be over friendly - though anxious - and lack social judgement skills. They exhibit an uneven cognitive-linguistic profile together with mild to severe mental retardation. Analysis of the cognitive phenotype based on analyses of the mental processes underlying overt behavior demonstrates major differences between normal and WS subjects although for some areas, such as face processing, WS subjects can achieve near normal scores. Cognitive analysis of patients with small deletions in 7q11.23 which include elastin and LIM Kinase 1 have revealed varying results and it is premature to draw genotype-phenotype correlations. (C) 2000 Wiley-Liss, Inc.
    Original languageEnglish
    Pages (from-to)164-171
    Number of pages7
    JournalAmerican Journal of Medical Genetics. Part C: Seminars in Medical Genetics
    Issue number2
    Publication statusPublished - 2000


    • 7q11.23 deletion
    • Cognitive profile
    • Elastin
    • LIM Kinase 1
    • Williams syndrome


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