ArticlePloS one2012
A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Pooled it
- Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.Molecular genetics & genomic medicine · 2018Trial
- Modeling Williams syndrome from a neurodevelopmental perspective: recent advances, model-based translational insights and future directions.World journal of pediatrics : WJP · 2026Review
- Inhibitory Systems in Brain Evolution: Pathways of Vulnerability in Neurodevelopmental Disorders.Brain, behavior and evolution · 2025Review
- Discovery of alternatively spliced isoforms and long non-coding RNA in full length brain transcriptomes of anadromous Hilsa shad, Tenualosa ilisha (Hamilton, 1822).Molecular biology reports · 2021Article
- A cross-comparison of cognitive ability across 8 genomic disorders.Current opinion in genetics & development · 2021Review
- An Exploration of Social Cognition in Children with Different Degrees of Genetic Deletion in Williams Syndrome.Journal of autism and developmental disorders · 2021Article
- Functions of Gtf2i and Gtf2ird1 in the developing brain: transcription, DNA binding and long-term behavioral consequences.Human molecular genetics · 2020Article
- Hypothalamic transcriptome of tame and aggressive silver foxes (Vulpes vulpes) identifies gene expression differences shared across brain regions.Genes, brain, and behavior · 2020Article
- Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.Journal of medical genetics · 2019Article
- The developmental and genetic basis of 'clubfoot' in the peroneal muscular atrophy mutant mouse.Development (Cambridge, England) · 2018Article
- Structural variants in genes associated with human Williams-Beuren syndrome underlie stereotypical hypersociability in domestic dogs.Science advances · 2017Article
- The work experience of a patient affected by Williams Syndrome: a pilot project at the Bambino Gesù Children's Hospital.Orphanet journal of rare diseases · 2017Article
- Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis.Molecular syndromology · 2016Article
- Social affiliation motives modulate spontaneous learning in Williams syndrome but not in autism.Molecular autism · 2016Article
- Verbal labels increase the salience of novel objects for preschoolers with typical development and Williams syndrome, but not in autism.Journal of neurodevelopmental disorders · 2016Article
- Article
- Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients.Journal of neurodevelopmental disorders · 2014Article
- Genetic insights into the functional elements of language.Human genetics · 2013Review
- Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome.Molecular autism · 2013Article
Corrections and comments
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Authors and funding
6 authors at 5 institutions in 2 countries.
Funding
Abstract
Executive functions are amongst the most heritable cognitive traits with twin studies indicating a strong genetic origin. However genes associated with this domain are unknown. 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. 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. 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. 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). They also displayed significantly more obsessions and externalizing behaviours, a likely manifestation of poor cognitive flexibility and executive dysfunction. 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. The identification of specific genes which contribute to executive function has important neuropsychological implications in the treatment of patients with conditions like WBS, and will allow further studies into their mechanism of action.
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