Journal Article

Williams–Beuren syndrome: a challenge for genotype–phenotype correlations

M. Tassabehji

in Human Molecular Genetics

Volume 12, issue suppl_2, pages R229-R237
Published in print October 2003 | ISSN: 0964-6906
Published online October 2003 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/ddg299
Williams–Beuren syndrome: a challenge for genotype–phenotype correlations

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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.

Journal Article.  8086 words.  Illustrated.

Subjects: Genetics and Genomics

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