ArticleHuman mutation2017
A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.
Article in Human mutation, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 27 citations in OpenAlex.
- Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.American journal of human genetics · 2026Article
- Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.Human genetics · 2024Article
- Loss of Cdc42 causes abnormal optic cup morphogenesis and microphthalmia in mouse.bioRxiv : the preprint server for biology · 2024Article
- Loss of Cdc42 causes abnormal optic cup morphogenesis and microphthalmia in mouse.Frontiers in cellular neuroscience · 2024Article
- Identification of Novel Coloboma Candidate Genes through Conserved Gene Expression Analyses across Four Vertebrate Species.Biomolecules · 2023Article
- De NovoInternational journal of molecular sciences · 2022Article
- DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.Audiology research · 2021Article
- When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report.Diagnostics (Basel, Switzerland) · 2021Article
- Nf2 fine-tunes proliferation and tissue alignment during closure of the optic fissure in the embryonic mouse eye.Human molecular genetics · 2020Article
- Actin Mutations and Their Role in Disease.International journal of molecular sciences · 2020Review
- Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.Experimental eye research · 2020Review
- Review
- An update on the genetics of ocular coloboma.Human genetics · 2019Review
- Article
- Building Bridges Between the Clinic and the Laboratory: A Meeting Review - Brain Malformations: A Roadmap for Future Research.Frontiers in cellular neuroscience · 2019Article
- Deletion at 12q12 increases the risk of developmental delay and intellectual disability.Annals of human genetics · 2018Article
- A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.Human mutation · 2017Article
Corrections and comments
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Authors and funding
16 authors at 3 institutions in 2 countries.
Funding
Abstract
Ocular coloboma (OC) is a defect in optic fissure closure and is a common cause of severe congenital visual impairment. Bilateral OC is primarily genetically determined and shows marked locus heterogeneity. Whole-exome sequencing (WES) was used to analyze 12 trios (child affected with OC and both unaffected parents). This identified de novo mutations in 10 different genes in eight probands. Three of these genes encoded proteins associated with actin cytoskeleton dynamics: ACTG1, TWF1, and LCP1. Proband-only WES identified a second unrelated individual with isolated OC carrying the same ACTG1 allele, encoding p.(Pro70Leu). Both individuals have normal neurodevelopment with no extra-ocular signs of Baraitser-Winter syndrome. We found this mutant protein to be incapable of incorporation into F-actin. The LCP1 and TWF1 variants each resulted in only minor disturbance of actin interactions, and no further plausibly causative variants were identified in these genes on resequencing 380 unrelated individuals with OC.
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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.