Williams syndrome, due to a contiguous gene deletion at 7q11.23, is associa
ted with a distinctive facial appearance, cardiac abnormalities, infantile
hypercalcemia, and growth and developmental retardation. The deletion is ap
proximately 1.5Mb and includes similar to 17 genes. Large repeats containin
g genes and pseudogenes flank the deletion breakpoints, and the mutation me
chanism commonly appears to be unequal meiotic recombination. Elastin hemiz
ygosity is associated with supravalvular aortic stenosis and other vascular
stenoses. LIM Kinase 1 hemizygosity may contribute to the characteristic c
ognitive 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 l
ack social judgement skills. They exhibit an uneven cognitive-linguistic pr
ofile together with mild to severe mental retardation. Analysis of the cogn
itive phenotype based on analyses of the mental processes underlying overt
behavior demonstrates major differences between normal and WS subjects alth
ough 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-Li
ss, Inc.