ArticleBMC neuroscience2014
Cognitive-behavioral phenotypes of Williams syndrome are associated with genetic variation in the GTF2I gene, in a healthy population.
Article in BMC neuroscience, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 44 citations in OpenAlex.
- 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
- Gtf2i-encoded transcription factor Tfii-i regulates myelination via Sox10 and Mbp regulatory elements.Nature communications · 2025Article
- Loss of GTF2I promotes neuronal apoptosis and synaptic reduction in human cellular models of neurodevelopment.Cell reports · 2024Article
- Article
- Deletion ofBiomedicines · 2023Article
- Clinical and genetic characteristics of two cases with Williams-Beuren syndrome.Translational pediatrics · 2021Article
- An Exploration of Social Cognition in Children with Different Degrees of Genetic Deletion in Williams Syndrome.Journal of autism and developmental disorders · 2021Article
- Molecules, Mechanisms, and Disorders of Self-Domestication: Keys for Understanding Emotional and Social Communication from an Evolutionary Perspective.Biomolecules · 2020Review
- High-throughput screening identifies histone deacetylase inhibitors that modulate GTF2I expression in 7q11.23 microduplication autism spectrum disorder patient-derived cortical neurons.Molecular autism · 2020Article
- Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams-Beuren syndrome.American journal of medical genetics. Part A · 2020Article
- Stability and change in social interaction style of children with autism spectrum disorder: A 4-year follow-up study.Autism research : official journal of the International Society for Autism Research · 2020Article
- Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders.Neurology. Genetics · 2019Article
- Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.Orphanet journal of rare diseases · 2019Article
- Dental-craniofacial manifestation and treatment of rare diseases.International journal of oral science · 2019Review
- Four structural variants associated with human-directed sociability in dogs are not found in tame red foxes (Vulpes vulpes).Animal genetics · 2019Article
- Maternal Interactive Behaviours in Parenting Children with Williams Syndrome and Autism Spectrum Disorder: Relations with Emotional/Behavioural Problems.Journal of autism and developmental disorders · 2019Article
- The other side of the coin: Hypersociability.Genes, brain, and behavior · 2019Review
- Consistent hypersocial behavior in mice carrying a deletion ofBrain and behavior · 2018Article
- Imaging Genetics and Genomics in Psychiatry: A Critical Review of Progress and Potential.Biological psychiatry · 2017Review
- The Williams syndrome prosociality geneBiology letters · 2017Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIndividuals with Williams syndrome, a neurogenetic condition caused by deletion of a set of genes at chromosomal location 7q11.23, exhibit a remarkable suite of traits including hypersociality with high, nonselective friendliness and low social anxiety, expressive language relatively well-developed but under-developed social-communication skills overall, and reduced visual-spatial abilities. Deletions and duplications of the Williams-syndrome region have also been associated with autism, and with schizophrenia, two disorders centrally involving social cognition. Several lines of evidence have linked the gene GTF2I (General Transcription Factor IIi) with the social phenotypes of Williams syndrome, but a role for this gene in sociality within healthy populations has yet to be investigated.
resultsWe genotyped a large set of healthy individuals for two single-nucleotide polymorphisms in the GTF2I gene that have recently been significantly associated with autism, and thus apparently exhibit functional effects on autism-related social phenotypes. GTF2I genotypes for these SNPs showed highly significant association with low social anxiety combined with reduced social-communication abilities, which represents a metric of the Williams-syndrome cognitive profile as described from previous studies.
conclusionsThese findings implicate the GTF2I gene in the neurogenetic basis of social communication and social anxiety, both in Williams syndrome and among individuals in healthy populations.
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