ArticleCold Spring Harbor molecular case studies2016
A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.
Article in Cold Spring Harbor molecular case studies, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 29 citations in OpenAlex.
- Decoding ZMYND11-Related Syndromic Intellectual Disability: From Epigenetic Mysteries to Therapeutic Horizons.Neuroscience bulletin · 2026Article
- ZMYND11 p.Arg600Trp variant associated with a distinctive neurodevelopmental phenotype.Human genome variation · 2026Article
- ZMYND11 Restrains KMT2A to Enable a Neuronal Developmental Program.bioRxiv : the preprint server for biology · 2025Article
- Histone variants: expanding the epigenetic potential of neurons one amino acid at a time.Trends in biochemical sciences · 2025Review
- Zmynd11 is essential for neurogenesis by coordinating H3K36me3 modification of Epha2 and PI3K signaling pathway.Cell & bioscience · 2025Article
- Article
- Bayesian Rare Variant Analysis Identifies Novel Schizophrenia Putative Risk Genes.Journal of personalized medicine · 2024Article
- Genomic regions, candidate genes, and pleiotropic variants associated with physiological and anatomical indicators of heat stress response in lactating sows.BMC genomics · 2024Article
- Further Delineation of Clinical Phenotype ofGenes · 2024Article
- Transgenic mice overexpressing mutant TDP-43 show aberrant splicing of neurological disorders-associated genemicroPublication biology · 2023Article
- A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.Biomolecules · 2022Article
- Untangling neurodevelopmental disorders in the adulthood: a movement disorder is the clue.Orphanet journal of rare diseases · 2022Article
- Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature.Molecular cytogenetics · 2021Article
- Case Report: Clinical Description of a Patient Carrying a 12.48 Mb Microdeletion Involving the 10p13-15.3 Region.Frontiers in pediatrics · 2021Article
- Histone H3.3 beyond cancer: Germline mutations inScience advances · 2020Article
- Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases.NAR genomics and bioinformatics · 2020Article
- Understanding histone H3 lysine 36 methylation and its deregulation in disease.Cellular and molecular life sciences : CMLS · 2019Review
- Autophagy mediates glucose starvation-induced glioblastoma cell quiescence and chemoresistance through coordinating cell metabolism, cell cycle, and survival.Cell death & disease · 2018Article
- Eosinophilic Esophagitis in Children.Current allergy and asthma reports · 2017Review
- Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region.Molecular cytogenetics · 2017Article
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Authors and funding
18 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recently, mutations in the zinc finger MYND-type containing 11 (ZMYND11) gene were identified in patients with autism spectrum disorders, intellectual disability, aggression, and complex neuropsychiatric features, supporting that this gene is implicated in 10p15.3 microdeletion syndrome. We report a novel de novo variant in the ZMYND11 gene (p.Ser421Asn) in a patient with a complex neurodevelopmental phenotype. The patient is a 24-yr-old Caucasian/Filipino female with seizures, global developmental delay, sensorineural hearing loss, hypotonia, dysmorphic features, and other features including a happy disposition and ataxic gait similar to Angelman syndrome. In addition, this patient had uncommon features including eosinophilic esophagitis and multiple, severe allergies not described in similar ZMYND11 cases. This new case further supports the association of ZMYND11 with autistic-like phenotypes and suggests that ZMYND11 should be included in the list of potentially causative candidate genes in cases with complex neurodevelopmental phenotypes.
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