ArticleMolecular genetics & genomic medicine2022
Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss-of-function variants.
Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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15 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- A Systematic Review of Cognitive and Behavioural Symptoms in CTNNB1 Syndrome.Neuropsychology review · 2026Pooled it
- Novel CTNNB1 Gene Variants in Spanish CTNNB1 Syndrome Patients: Clinical and Psychological Manifestations.Journal of autism and developmental disorders · 2026Article
- Resolving Diagnostic Uncertainty in Neurodevelopmental Disorders Using Exome Sequencing Supported by Literature-Based Multi-Omics Evidence.Biomolecules · 2026Article
- Genotype-phenotype characterization and functional reconstitution of pathogenic β-catenin variants from CTNNB1 syndrome patients.PLoS genetics · 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
- Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder.Clinical genetics · 2024Article
- Neurodegeneration-associated protein VAPB regulates proliferation in medulloblastoma.Scientific reports · 2023Article
- Alopecia areata-like pattern of baldness: the most recent update and the expansion of novel phenotype and genotype in the CTNNB1 gene.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- Molecular Subtype Classification of Postmenopausal Osteoporosis and Immune Infiltration Microenvironment Based on Bioinformatics Analysis of Osteoclast-Regulatory Genes.Biomedicines · 2023Article
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- CTNNB1 in neurodevelopmental disorders.Frontiers in psychiatry · 2023Review
- Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss-of-function variants.Molecular genetics & genomic medicine · 2022Article
- 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
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Authors and funding
6 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundNeurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) is a rare autosomal dominant syndrome, which is caused by the heterozygous germline loss-of-function variants in CTNNB1.
methodsWe evaluated the clinical and genetic findings of 24 previously undescribed Chinese patients affected by CTNNB1-related disorders and explored the possible ethnicity-related phenotypic variations.
resultsTwenty-one loss-of-function variants were identified within these 24 NEDSDV patients, including 14 novel CTNNB1 variants and 7 recurrent ones. The prominent clinical manifestations in our cohort are developmental delay/intellectual disability (100%), motor delay (100%), speech impairment (100%), dystonia (87.5%) and microcephaly (69.6%). The common facial dysmorphisms were consistent with previous reports, including wide nasal bridge (58.3%), bulbous nose (45.8%), long philtrum (45.8%) and thin upper lip (45.8%). In addition, 19 patients (79.2%) in our cohort had mild visual defects, while one affected individual (4.2%) had familial exudative vitreoretinopathy. Notably, we discovered that 20 patients (83.3%) exhibited various behavioral abnormalities, which is described in Chinese patients for the first time.
conclusionWe provided the largest known Chinese cohort with pathogenic CTNNB1 variants, which not only helps to expand the variant spectrum of CTNNB1 gene, but further delineates the typical phenotype of this disorder in Chinese population.
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