ABSTRACT
In this chapter, the authors take Williams-Beuren syndrome (WBS) as a model for cognitive profiling and examine two cases at the physical, cognitive, and molecular level. They compare the profile of one unusually high functioning patient with WBS to one supravalvular aortic stenosis (SVAS) patient who has a large deletion within the WBS critical region. Somatic cell hybrids containing the deleted chromosome were used to assess the extent of the deletions in these patients, so that genotype comparisons could be made. Analysis of such cases highlights typical differences in cognitive profiles between normal controls and all patients with WBS, whatever their intellectual level. In response to evidence from a study suggesting that LIM kinase-1 (LIMK1) haploinsufficiency contributes to the spatial impairment in WBS, the authors carry out cognitive profiling of SVAS patients all with deletions of at least elastin and LIMK1 and found no evidence in any of them of the linguistic imbalance typical of patients with WBS.
