Human Molecular Genetics Advance Access originally published online on September 2, 2003
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Human Molecular Genetics, 2003, Vol. 12, Review Issue 2 R229-R237
DOI: 10.1093/hmg/ddg299
© 2003 Oxford University Press
Williams–Beuren syndrome: a challenge for genotype–phenotype correlations
University Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester, M13 0JH, UK
Received August 14, 2003; Accepted August 21, 2003
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.
* To whom correspondence should be addressed. Tel: +44 1612766608; Fax: +44 1612766606; Email: m.tassabehji{at}man.ac.uk
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