ArticleEuropean journal of human genetics : EJHG2023
ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes.
Article in European journal of human genetics : EJHG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 10 citations in OpenAlex.
- Unveiling ocular developmental disorders through short-read whole-genome sequencing.European journal of human genetics : EJHG · 2026Article
- Intragenic loss-of-function variants in transcription factorsJournal of medical genetics · 2026Article
- The Developmental Landscape of Children With Uveal Coloboma and Its Relationship With Clinical Phenotype and Genetics.American journal of ophthalmology · 2026Article
- Phosphoproteomics unveils the signaling dynamics in neuronal cells stimulated with insulin and insulin-like growth factors.Cell communication and signaling : CCS · 2025Article
- Deepening the Modulatory Activity of Bioactive Compounds Against AFB1- and OTA-Induced Neuronal Toxicity Through a Proteomic Approach.Antioxidants (Basel, Switzerland) · 2025Article
- Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.Progress in retinal and eye research · 2024Review
- The CPLANE protein Fuzzy regulates ciliogenesis by suppressing actin polymerization at the base of the primary cilium via p190A RhoGAP.Development (Cambridge, England) · 2024Article
- 2023 in the European Journal of Human Genetics.European journal of human genetics : EJHG · 2024Article
- AHuman mutation · 2024Article
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
ARHGAP35 has known roles in cell migration, invasion and division, neuronal morphogenesis, and gene/mRNA regulation; prior studies indicate a role in cancer in humans and in the developing eyes, neural tissue, and renal structures in mice. We identified damaging variants in ARHGAP35 in five individuals from four families affected with anophthalmia, microphthalmia, coloboma and/or anterior segment dysgenesis disorders, together with variable non-ocular phenotypes in some families including renal, neurological, or cardiac anomalies. Three variants affected the extreme C-terminus of the protein, with two resulting in a frameshift and C-terminal extension and the other a missense change in the Rho-GAP domain; the fourth (nonsense) variant affected the middle of the gene and is the only allele predicted to undergo nonsense-mediated decay. This study implicates ARHGAP35 in human developmental eye phenotypes. C-terminal clustering of the identified alleles indicates a possible common mechanism for ocular disease but requires further studies.
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Registered trials
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