ArticleAmerican journal of medical genetics. Part A2021
Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants.
Article in American journal of medical genetics. Part A, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 15 citations in OpenAlex.
- Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndrome.European journal of human genetics : EJHG · 2026Article
- Axenfeld-Rieger Syndrome with Negative Chromosomal Microarray and Whole-Exome Sequencing: A Case Report.International medical case reports journal · 2026Article
- Diagnostic Challenges of Axenfeld-Rieger Syndrome and a Novel FOXC1 Gene Mutation in a Polish Family.Journal of clinical medicine · 2024Article
- Evaluating neural crest cell migration in a Col4a1 mutant mouse model of ocular anterior segment dysgenesis.Cells & development · 2024Article
- Complex genomic rearrangement with deletion ofMolecular vision · 2024Review
- Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series.AJNR. American journal of neuroradiology · 2023Article
- Posterior corneoscleral limbus: Architecture, stem cells, and clinical implications.Progress in retinal and eye research · 2023Review
- Axenfeld-Rieger syndrome: orthopedic and orthodontic management in a pediatric patient: a case report.Head & face medicine · 2022Article
- A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome.BMC medical genomics · 2021Article
- Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants.American journal of medical genetics. Part A · 2021Article
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Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Axenfeld-Rieger syndrome is a genetic condition characterized by ocular and systemic features and is most commonly caused by variants in the FOXC1 or PITX2 genes. Facial dysmorphism is part of the syndrome but the differences between both genes have never been systematically assessed. Here, 11 facial traits commonly reported in Axenfeld-Rieger syndrome were assessed by five clinical geneticists blinded to the molecular diagnosis. Individuals were drawn from the Australian and New Zealand Registry of Advanced Glaucoma in Australia or recruited through the Genetic and Ophthalmology Unit of l'Azienda Socio-Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda in Italy. Thirty-four individuals from 18 families were included. FOXC1 variants were present in 64.7% of individuals and PITX2 variants in 35.3% of individuals. A thin upper lip (55.9%) and a prominent forehead (41.2%) were common facial features shared between both genes. Hypertelorism/telecanthus (81.8% vs 25.0%, p = 0.002) and low-set ears (31.8% vs 0.0%, p = 0.036) were significantly more prevalent in individuals with FOXC1 variants compared with PITX2 variants. These findings may assist clinicians in reaching correct clinical and molecular diagnoses, and providing appropriate genetic counseling.
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