ArticleAmerican journal of human genetics2013
Mutations in ANTXR1 cause GAPO syndrome.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 92 citations in OpenAlex.
- Dynamic S-acylation controls CMG2 maturation extracellular matrix regulation and anthrax toxin susceptibility in vivo.Nature communications · 2026Article
- Expression changes of human Schlemm's canal endothelial cells in response to cyclic mechanical stretch.Experimental eye research · 2026Article
- Unravelling the Phosphorylation Landscape of Anthrax Toxin Receptor 1: Mechanisms and Functional Insights Through Phosphoproteomic Data Integration.The protein journal · 2025Article
- ANTXR1 blockade enhances cardiac function in preclinical models of heart failure.Nature cardiovascular research · 2025Article
- Exploring potential therapeutic targets for cardiomyopathy: A proteome-wide Mendelian randomization analysis.Medicine · 2025Article
- Abnormal dental phenotypes in GAPO syndrome: A descriptive study with a newThe Saudi dental journal · 2024Article
- ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder.Scientific reports · 2024Article
- Primary ovarian insufficiency: update on clinical and genetic findings.Frontiers in endocrinology · 2024Review
- Distribution ofMolecular vision · 2023Article
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- Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?Diagnostics (Basel, Switzerland) · 2022Article
- Cancer cell survival depends on collagen uptake into tumor-associated stroma.Nature communications · 2022Article
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- Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.Orphanet journal of rare diseases · 2022Review
- Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis.Advances in experimental medicine and biology · 2021Review
- Antxr1, Which is a Target of Runx2, Regulates Chondrocyte Proliferation and Apoptosis.International journal of molecular sciences · 2020Article
- GAPO syndrome with craniosynostosis and intracranial hypertension.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2019Article
- P-cadherin mutations are associated with high basal Wnt activity and stemness in canine mammary tumor cell lines.Oncotarget · 2019Article
- Converging physiological roles of the anthrax toxin receptors.F1000Research · 2019Review
- Calculating the statistical significance of rare variants causal for Mendelian and complex disorders.BMC medical genomics · 2018Article
Corrections and comments
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Authors and funding
25 authors at 6 institutions in 5 countries.
Funding
Abstract
The genetic cause of GAPO syndrome, a condition characterized by growth retardation, alopecia, pseudoanodontia, and progressive visual impairment, has not previously been identified. We studied four ethnically unrelated affected individuals and identified homozygous nonsense mutations (c.262C>T [p.Arg88*] and c.505C>T [p.Arg169*]) or splicing mutations (c.1435-12A>G [p.Gly479Phefs*119]) in ANTXR1, which encodes anthrax toxin receptor 1. The nonsense mutations predictably trigger nonsense-mediated mRNA decay, resulting in the loss of ANTXR1. The transcript with the splicing mutation theoretically encodes a truncated ANTXR1 containing a neopeptide composed of 118 unique amino acids in its C terminus. GAPO syndrome's major phenotypic features, which include dental abnormalities and the accumulation of extracellular matrix, recapitulate those found in Antxr1-mutant mice and point toward an underlying defect in extracellular-matrix regulation. Thus, we propose that mutations affecting ANTXR1 function are responsible for this disease's characteristic generalized defect in extracellular-matrix homeostasis.
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