Williams syndrome: From genotype through to the cognitive phenotype
- 1 January 2000
- journal article
- review article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 97 (2), 164-171
- https://doi.org/10.1002/1096-8628(200022)97:2<164::aid-ajmg8>3.0.co;2-f
Abstract
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. Am. J. Med. Genet. (Semin. Med. Genet.) 97:164–171, 2000.Keywords
This publication has 44 references indexed in Scilit:
- Contrasting Patterns of Cognitive Abilities of 9- and 10-Year-Olds With Williams Syndrome or Down SyndromeDevelopmental Neuropsychology, 1999
- An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxaHuman Molecular Genetics, 1998
- LIM–kinase deleted in Williams syndromeNature Genetics, 1996
- Delineation of 7q11.2 Deletions Associated with Williams–Beuren Syndrome and Mapping of a Repetitive Sequence to within and to Either Side of the Common DeletionGenomics, 1996
- Incidence and spectrum of renal abnormalities in Williams-Beuren syndromeAmerican Journal of Medical Genetics, 1996
- Williams syndrome: Autosomal dominant inheritanceAmerican Journal of Medical Genetics, 1993
- A cognitive and behavioural phenotype in williams syndromeJournal of Clinical and Experimental Neuropsychology, 1991
- Natural history of Williams syndrome: Physical characteristicsThe Journal of Pediatrics, 1988
- Supravalvular Aortic Stenosis in Association with Mental Retardation and a Certain Facial AppearanceCirculation, 1962
- Supravalvular Aortic StenosisCirculation, 1961