ArticleMolecular genetics & genomic medicine2021
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype.
Article in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 17 papers, 2 of them syntheses 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.
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Who cites it
17 citing papers in PubMed, 2 syntheses or guidelines pooled it, 25 citations in OpenAlex.
- A Systematic Review of Cognitive and Behavioural Symptoms in CTNNB1 Syndrome.Neuropsychology review · 2026Pooled it
- Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.International journal of molecular sciences · 2022Pooled it
- Novel CTNNB1 Gene Variants in Spanish CTNNB1 Syndrome Patients: Clinical and Psychological Manifestations.Journal of autism and developmental disorders · 2026Article
- Comparisons of Genetic and Clinical Findings in Patients with Syndromic to Non-Syndromic Familial Exudative Vitreoretinopathy.International journal of molecular sciences · 2026Article
- The first description of CTNNB1 syndrome in the Tunisian population: clinical investigation, molecular docking and molecular dynamics simulation of β-catenin/E-cadherin complex.Molecular biology reports · 2025Article
- Cognitive and Adaptive Functioning of CTNNB1 Syndrome Patients: A Comparison With Autism Spectrum Disorder and Cerebral Palsy.Journal of intellectual disability research : JIDR · 2025Article
- Familial exudative vitreoretinopathy caused by CTNNB1 gene de novo mutation in a Chinese family: a case report.BMC pediatrics · 2025Article
- Case report: Discovery of novelFrontiers in genetics · 2025Article
- Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.Genetics in medicine open · 2024Article
- Familial Exudative Vitreoretinopathy and Systemic Abnormalities in Patients With CTNNB1 Mutations.Investigative ophthalmology & visual science · 2023Article
- Article
- Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss-of-function variants.Molecular genetics & genomic medicine · 2022Article
- Mutation spectrum in a cohort with familial exudative vitreoretinopathy.Molecular genetics & genomic medicine · 2022Article
- The extended clinical and genetic spectrum ofFrontiers in pediatrics · 2022Article
- Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.Genes · 2021Article
- Utility of Fluorescein Angiography for Early Detection of Familial Exudative Vitreoretinopathy in Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects Due toJournal of pediatric ophthalmology and strabismusArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 7 institutions in 1 country.
Funding
Abstract
backgroundCTNNB1 (MIM 116806) encodes beta-catenin, an adherens junction protein that supports the integrity between layers of epithelial tissue and mediates intercellular signaling. Recently, various heterozygous germline variants in CTNNB1 have been associated with human disease, including neurodevelopmental disorder with spastic diplegia and visual defects (MIM 615075) as well as isolated familial exudative vitreoretinopathy without developmental delays or other organ system involvement (MIM 617572). From over 40 previously reported patients with CTNNB1-related neurodevelopmental disorder, many have had ocular anomalies including strabismus, hyperopia, and astigmatism. More recently, multiple reports indicate that these abnormalities are associated with the presence of vitreoretinopathy.
methodsWe gathered a cohort of three patients with CTNNB1-related neurodevelopmental disorder, recruited from both our own clinic and referred from outside providers. We then searched for a clinical database comprised of over 12,000 exome sequencing studies to identify and recruit four additional patients.
resultsHere, we report seven new cases of CTNNB1-related neurodevelopmental disorder, all harboring de novo variants, six of which were previously unreported. All patients but one presented with a spectrum of ocular abnormalities and one patient, who was found to carry a missense variant in CTNNB1, had notable vitreoretinopathy.
conclusionsOur findings suggest ophthalmologic screening should be performed in all patients with CTNNB1 variants.
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.