ArticleAmerican journal of human genetics2012
The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- Neuropsychological Genotype-Phenotype in Patients with Williams Syndrome with Atypical Deletions: A Systematic Review.Neuropsychology review · 2023Pooled it
- Modeling Williams syndrome from a neurodevelopmental perspective: recent advances, model-based translational insights and future directions.World journal of pediatrics : WJP · 2026Review
- Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies.Annals of clinical and translational neurology · 2026Article
- RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model.Journal of genetics and genomics = Yi chuan xue bao · 2024Article
- AnIranian journal of basic medical sciences · 2023Article
- Williams syndrome.Nature reviews. Disease primers · 2021Review
- An introduction to new robust linear and monotonic correlation coefficients.BMC bioinformatics · 2021Article
- Genetic architecture underlying changes in carotenoid accumulation during the evolution of the blind Mexican cavefish, Astyanax mexicanus.Journal of experimental zoology. Part B, Molecular and developmental evolution · 2020Article
- Reduction of Fmr1 mRNA Levels Rescues Pathological Features in Cortical Neurons in a Model of FXTAS.Molecular therapy. Nucleic acids · 2019Article
- Peripheral blood DNA methylation differences in twin pairs discordant for Alzheimer's disease.Clinical epigenetics · 2019Article
- Dental-craniofacial manifestation and treatment of rare diseases.International journal of oral science · 2019Review
- Analysis of two birth tissues provides new insights into the epigenetic landscape of neonates born preterm.Clinical epigenetics · 2019Observational
- Association ofNeural regeneration research · 2019Article
- Williams Syndrome, Human Self-Domestication, and Language Evolution.Frontiers in psychology · 2019Article
- High-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestry.Nature genetics · 2016Article
- Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis.Molecular syndromology · 2016Article
- The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
- Quantitative linkage for autism spectrum disorders symptoms in attention-deficit/hyperactivity disorder: significant locus on chromosome 7q11.Journal of autism and developmental disorders · 2014Article
- A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.Nature genetics · 2014Article
- Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients.Journal of neurodevelopmental disorders · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Williams-Beuren syndrome is a rare contiguous gene syndrome, characterized by intellectual disability, facial dysmorphisms, connective-tissue abnormalities, cardiac defects, structural brain abnormalities, and transient infantile hypercalcemia. Genes lying telomeric to RFC2, including CLIP2, GTF2I and GTF2IRD1, are currently thought to be the most likely major contributors to the typical Williams syndrome cognitive profile, characterized by a better-than-expected auditory rote-memory ability, a relative sparing of language capabilities, and a severe visual-spatial constructive impairment. Atypical deletions in the region have helped to establish genotype-phenotype correlations. So far, however, hardly any deletions affecting only a single gene in the disease region have been described. We present here two healthy siblings with a pure, hemizygous deletion of CLIP2. A putative role in the cognitive and behavioral abnormalities seen in Williams-Beuren patients has been suggested for this gene on the basis of observations in a knock-out mouse model. The presented siblings did not show any of the clinical features associated with the syndrome. Cognitive testing showed an average IQ for both and no indication of the Williams syndrome cognitive profile. This shows that CLIP2 haploinsufficiency by itself does not lead to the physical or cognitive characteristics of the Williams-Beuren syndrome, nor does it lead to the Williams syndrome cognitive profile. Although contribution of CLIP2 to the phenotype cannot be excluded when it is deleted in combination with other genes, our results support the hypothesis that GTF2IRD1 and GTF2I are the main genes causing the cognitive defects associated with Williams-Beuren syndrome.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.