ArticleAmerican journal of human genetics2014
Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.
Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 71 citations in OpenAlex.
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- Region-resolved proteomic map of the human brain: functional interconnections and neurological implications.Signal transduction and targeted therapy · 2026Article
- eIF5A and hypusination-related disorders: literature review and case report of DOHH-related encephalopathy.Journal of neurodevelopmental disorders · 2025Review
- DNA methylation patterns in umbilical cord blood from infants of methadone maintained opioid dependent mothers.Scientific reports · 2024Article
- Molecular and cellular evolution of the amygdala across species analyzed by single-nucleus transcriptome profiling.Cell discovery · 2023Article
- Neural stem cell research in Africa: current realities and future prospects.Biology open · 2022Review
- Antagonistic Activities of Fmn2 and ADF Regulate Axonal F-Actin Patch Dynamics and the Initiation of Collateral Branching.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2022Article
- Article
- Selecting Genetic Variants and Interactions Associated with Amyotrophic Lateral Sclerosis: A Group LASSO Approach.Journal of personalized medicine · 2022Article
- Need for revision of the ACMG/AMP guidelines for interpretation of X-linked variants.Intractable & rare diseases research · 2022Article
- SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Heterozygous FMN2 missense variant found in a family case of premature ovarian insufficiency.Journal of ovarian research · 2022Article
- A recurrent,HGG advances · 2022Article
- Genomics of human congenital hydrocephalus.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Article
- Formins in Human Disease.Cells · 2021Review
- Neuronal Cytoskeleton in Intellectual Disability: From Systems Biology and Modeling to Therapeutic Opportunities.International journal of molecular sciences · 2021Review
- Molecular Mechanisms and Risk Factors for the Pathogenesis of Hydrocephalus.Frontiers in genetics · 2021Review
- Rab27a co-ordinates actin-dependent transport by controlling organelle-associated motors and track assembly proteins.Nature communications · 2020Article
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Authors and funding
23 authors at 9 institutions in 4 countries.
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Abstract
Dendritic spines represent the major site of neuronal activity in the brain; they serve as the receiving point for neurotransmitters and undergo rapid activity-dependent morphological changes that correlate with learning and memory. Using a combination of homozygosity mapping and next-generation sequencing in two consanguineous families affected by nonsyndromic autosomal-recessive intellectual disability, we identified truncating mutations in formin 2 (FMN2), encoding a protein that belongs to the formin family of actin cytoskeleton nucleation factors and is highly expressed in the maturing brain. We found that FMN2 localizes to punctae along dendrites and that germline inactivation of mouse Fmn2 resulted in animals with decreased spine density; such mice were previously demonstrated to have a conditioned fear-learning defect. Furthermore, patient neural cells derived from induced pluripotent stem cells showed correlated decreased synaptic density. Thus, FMN2 mutations link intellectual disability either directly or indirectly to the regulation of actin-mediated synaptic spine density.
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