ArticleEuropean journal of human genetics : EJHG2012
PITX2 and FOXC1 spectrum of mutations in ocular syndromes.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers.
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Who cites it
78 citing papers in PubMed, 148 citations in OpenAlex.
- Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndrome.European journal of human genetics : EJHG · 2026Article
- Identification and functional study of a novel FOXC1 missense mutation in a Chinese family with Axenfeld-Rieger syndrome.Scientific reports · 2025Article
- Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations.Ophthalmology and therapy · 2025Review
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- Insights intoLife (Basel, Switzerland) · 2025Review
- Evaluating neural crest cell migration in a Col4a1 mutant mouse model of ocular anterior segment dysgenesis.Cells & development · 2024Article
- Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.Progress in retinal and eye research · 2024Review
- Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome.American journal of medical genetics. Part A · 2024Article
- Iridoschisis misdiagnosed as acute angle-closure glaucoma: a case report and literature review.International journal of ophthalmology · 2024Article
- Complex genomic rearrangement with deletion ofMolecular vision · 2024Review
- Article
- Axenfeld-Reiger syndrome: A search for the missing links.World journal of clinical cases · 2023Article
- Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series.AJNR. American journal of neuroradiology · 2023Article
- The morphology of angle dysgenesis assessed by ultrasound biomicroscopy and its relationship with glaucoma severity and mutant genes in Axenfeld-Rieger syndrome.Quantitative imaging in medicine and surgery · 2023Article
- Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?American journal of ophthalmology · 2023Observational
- GEO data mining identifies potential immune-related genes in hypertrophic scar and verities in a rabbit model.Heliyon · 2023Article
- The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.Orphanet journal of rare diseases · 2023Review
- Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives.Clinical ophthalmology (Auckland, N.Z.) · 2023Review
- Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.Frontiers in genetics · 2023Article
- CRISPR-Cas9-mediated functional dissection of the foxc1 genomic region in zebrafish identifies critical conserved cis-regulatory elements.Human genomics · 2022Article
18 more citing papers are in PubMed but not listed here.
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Authors and funding
11 authors at 5 institutions in 3 countries.
Funding
Abstract
Anterior segment dysgenesis (ASD) encompasses a broad spectrum of developmental conditions affecting anterior ocular structures and associated with an increased risk for glaucoma. Various systemic anomalies are often observed in ASD conditions such as Axenfeld-Rieger syndrome (ARS) and De Hauwere syndrome. We report DNA sequencing and copy number analysis of PITX2 and FOXC1 in 76 patients with syndromic or isolated ASD and related conditions. PITX2 mutations and deletions were found in 24 patients with dental and/or umbilical anomalies seen in all. Seven PITX2-mutant alleles were novel including c.708_730del, the most C-terminal mutation reported to date. A second case of deletion of the distant upstream but not coding region of PITX2 was identified, highlighting the importance of this recently discovered mechanism for ARS. FOXC1 deletions were observed in four cases, three of which demonstrated hearing and/or heart defects, including a patient with De Hauwere syndrome; no nucleotide mutations in FOXC1 were identified. Review of the literature identified several other patients with 6p25 deletions and features of De Hauwere syndrome. The 1.3-Mb deletion of 6p25 presented here defines the critical region for this phenotype and includes the FOXC1, FOXF2, and FOXQ1 genes. In summary, PITX2 or FOXC1 disruptions explained 63% of ARS and 6% of other ASD in our cohort; all affected patients demonstrated additional systemic defects with PITX2 mutations showing a strong association with dental and/or umbilical anomalies and FOXC1 with heart and hearing defects. FOXC1 deletion was also found to be associated with De Hauwere syndrome.
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