ArticleJournal of medical genetics2017
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
Article in Journal of medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 63 citations in OpenAlex.
- High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.American journal of human genetics · 2017Pooled it
- Review
- Identification of a Novel De Novo HECW2 Gene Pathogenic Variant in a Fetus With Cardiac Abnormalities.Prenatal diagnosis · 2026Article
- Genome-Wide Association Studies of Delay Discounting and Impulsive Personality Traits in Children From the Adolescent Behavior and Cognitive Development Study.Genes, brain, and behavior · 2025Article
- Identification of genetic signatures of positive selection in apes linked to life-history trait adaptations.Genes & genomics · 2025Article
- Neurotrophic factor biomarkers for ischemic stroke diagnosis and mechanistic insights.Scientific reports · 2025Article
- Identification of E3 Ubiquitin Ligase Substrates Using Biotin Ligase-Based Proximity Labeling Approaches.Biomedicines · 2025Review
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- Profiling immune cell-related gene features and immunoregulatory ceRNA in ischemic stroke.Molecular biomedicine · 2024Article
- A multi-omic single-cell landscape of cellular diversification in the developing human cerebral cortex.Computational and structural biotechnology journal · 2024Article
- E3 ubiquitin ligase HECW2: a promising target for tumour therapy.Cancer cell international · 2024Review
- A De Novo HECW2 Variant in a Patient with Acetazolamide-Responsive Episodic Ataxia.Cerebellum (London, England) · 2023Article
- A novel HECW2 variant in an infant with congenital long QT syndrome.Human genome variation · 2023Article
- Activity-Dependent Non-Coding RNA MAPK Interactome of the Human Epileptic Brain.Non-coding RNA · 2023Article
- HECW2 promotes the progression and chemoresistance of colorectal cancer via AKT/mTOR signaling activation by mediating the ubiquitin-proteasome degradation of lamin B1.Journal of Cancer · 2023Article
- Redefining the catalytic HECT domain boundaries for the HECT E3 ubiquitin ligase family.Bioscience reports · 2022Article
- De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.Brain : a journal of neurology · 2022Article
- Article
- The Roles of NEDD4 Subfamily of HECT E3 Ubiquitin Ligases in Neurodevelopment and Neurodegeneration.International journal of molecular sciences · 2022Review
- Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.Human genetics · 2022Article
Corrections and comments
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Authors and funding
19 authors at 8 institutions in 1 country.
Funding
Abstract
backgroundThe causes of intellectual disability (ID) are diverse and de novo mutations are increasingly recognised to account for a significant proportion of ID. METHODS AND
resultsIn this study, we performed whole exome sequencing on a large cohort of patients with ID or neurodevelopmental delay and identified four novel de novo predicted deleterious missense variants in HECW2 in six probands with ID/developmental delay and hypotonia. Other common features include seizures, strabismus, nystagmus, cortical visual impairment and dysmorphic facial features. HECW2 is an ubiquitin ligase that stabilises p73, a crucial mediator of neurodevelopment and neurogenesis.
conclusionThis study implicates pathogenic genetic variants in HECW2 as potential causes of neurodevelopmental disorders in humans.
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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.