Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.
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.
Tassabehji
M
M
University Department of Medical Genetics, St Mary's Hospital, Manchester, UK. m.tassabehji@man.ac.uk
D000818:Animals; D002884:Chromosomes, Human, Pair 15; D002892:Chromosomes, Human, Pair 22; D002897:Chromosomes, Human, Pair 7; D003072:Cognition Disorders / Q000503:physiopathology; D004195:Disease Models, Animal; D018392:Genomic Imprinting; D005838:Genotype; D006801:Humans; D051379:Mice; D010641:Phenotype; D018980:Williams Syndrome / Q000235:genetics* / Q000503:physiopathology