We provide the first evidence for a role for GTF2IRD2 in higher-level (executive functioning) abilities and highlight the importance of integrating detailed molecular characterisation of patients with comprehensive neuropsychological profiling to uncover additional genotype-phenotype correlations.

They also displayed significantly more obsessions and externalizing behaviours, a likely manifestation of poor cognitive flexibility and executive dysfunction. A multi-level analysis of cognitive, behavioural and psychological functioning in WBS patients showed that those with slightly larger deletions encompassing GTF2IRD2 were significantly more cognitively impaired in the areas of spatial functioning, social reasoning, and cognitive flexibility (a form of executive functioning).

The GTF gene family of transcription factors ( GTF2I, GTF2IRD1 and GTF2IRD2) are all highly expressed in the brain, and GTF2I and GTF2IRD1 are involved in the pathogenesis of the cognitive and behavioural phenotypes associated with WBS. Comparative genome array screening of 55 WBS patients revealed a larger ∼1.8 Mb microdeletion in 18% of cases, which results in the loss of an additional gene, the transcription factor GTF2IRD2. Our research into the neurodevelopmental disorder Williams-Beuren syndrome (WBS) has identified a gene within the causative recurrent 1.5/1.6 Mb heterozygous microdeletion on chromosome 7q11.23, which may be involved in executive functioning. However genes associated with this domain are unknown. The Web app based on scientific methods takes CIE (International Commission on Illumination) standards into account and provides useful background information, in order to facilitate the design of lighting solutions for art applications.Executive functions are amongst the most heritable cognitive traits with twin studies indicating a strong genetic origin. Web app facilitates design of conservational lighting solutions The Zumtobel Web app facilitates the design of lighting solutions for art applications by comparing radiation times and illuminance levels of various light sources with respect to their risk of potential colour changes. Luminaires made of PMMA are also resistant to aggressive cleaning agents, oils and lubricants. Specially designed surfaces make it hard for dirt and foreign bodies to stick to them, reducing the cleaning work to a minimum. It goes without saying that industrial luminaries from Zumtobel have a higher degree of protection. As a result, the luminaires have to rely on special design principles and materials if they still want to provide an optimum performance in demanding environments.

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