ArticleMolecular genetics & genomic medicine2018
Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities.
Article in Molecular genetics & genomic medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19 citing papers in PubMed, 26 citations in OpenAlex.
- High-fat diet-responsive DNM1 promotes hepatocellular carcinoma progression and predicts poor prognosis in viral-associated patients.American journal of cancer research · 2026Article
- Expanding the phenotypic spectrum of DNM1-related disorders: novel GTPase domain variants and their diverse neurological outcomes.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Deep Brain Stimulation in Leigh-Like Syndrome Due to DNM1 Pathogenic Variant.Tremor and other hyperkinetic movements (New York, N.Y.) · 2025Article
- Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved.International journal of molecular sciences · 2024Review
- Effective knockdown-replace gene therapy in a novel mouse model of DNM1 developmental and epileptic encephalopathy.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.Brain : a journal of neurology · 2024Article
- Multiple machine-learning tools identifying prognostic biomarkers for acute Myeloid Leukemia.BMC medical informatics and decision making · 2024Article
- Reversal of cell, circuit and seizure phenotypes in a mouse model of DNM1 epileptic encephalopathy.Nature communications · 2023Article
- A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a.Neurogenetics · 2023Article
- Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy.Frontiers in pediatrics · 2023Article
- Loss-of-function variants inJournal of medical genetics · 2022Article
- Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.Frontiers in neurology · 2022Review
- PathogenicNeurology. Genetics · 2021Article
- DNM1: A Prognostic Biomarker Associated with Immune Infiltration in Colon Cancer-A Study Based on TCGA Database.BioMed research international · 2021Article
- Article
- Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant.Human genetics · 2020Article
- RNAi-Based Gene Therapy Rescues Developmental and Epileptic Encephalopathy in a Genetic Mouse Model.Molecular therapy : the journal of the American Society of Gene Therapy · 2020Article
- Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation.Frontiers in pharmacology · 2019Article
- Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities.Molecular genetics & genomic medicine · 2018Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundDynamin 1 is a protein involved in the synaptic vesicle cycle, which facilitates the exocytosis of neurotransmitters necessary for normal signaling and development in the central nervous system. Pathogenic variants in DNM1 have been implicated in global developmental delay (DD), severe intellectual disability (ID), and notably, epileptic encephalopathy. All previously reported DNM1 pathogenic variants causing this severe phenotype occur in the GTPase and Middle domains of the dynamin 1 protein.
methodsWe used whole-exome sequencing to characterize the molecular basis of DD and autistic symptoms in two identical siblings.
resultsThe twin siblings exhibit mild to moderate ID and autistic symptoms but no epileptic encephalopathy. Exome sequencing revealed a genetic variant, c.1603A>G (p.Lys535Glu), in the PH domain of dynamin 1. Previous in vitro studies showed that mutations at Lys535 inhibit endocytosis and impair PH loop binding to PIP2.
conclusionsOur data suggest a previously undescribed milder phenotype associated with a missense genetic variant in the PH domain of dynamin 1.
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