ArticleExperimental and therapeutic medicine2019
A novel mutation of FOXC1 in a Chinese family with Axenfeld-Rieger syndrome.
Article in Experimental and therapeutic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 11 citations in OpenAlex.
- Genetic characterization and functional analysis of novel PITX2 variants identified in Chinese families with Axenfeld-Rieger syndrome.Acta biochimica et biophysica Sinica · 2025Article
- Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype-phenotype correlations.Molecular cytogenetics · 2023Article
- Article
- A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome.BMC medical genomics · 2021Article
- A novel missense mutation of FOXC1 in an Axenfeld-Rieger syndrome patient with a congenital atrial septal defect and sublingual cyst: a case report and literature review.BMC medical genomics · 2021Review
- Axenfeld-Rieger syndrome combined with a foveal anomaly in a three-generation family: a case report.BMC ophthalmology · 2021Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Axenfeld-Rieger syndrome (ARS) is a disorder affecting the anterior segment of the eye and causing systemic malformations, and follows an autosomal-dominant inheritance pattern. The aim of the present study was to identify the underlying cause of ARS in a Chinese family. Genomic DNA was extracted from the peripheral blood of the subjects from a family with ARS. The pathogenic variant was identified by targeted next-generation sequencing and confirmed by Sanger sequencing. A novel heterozygous mutation of the forkhead box (FOX)C1 gene (c.1494delG, p.G499Afs*20) was detected in all affected members of the family, while no mutation was identified in the unaffected members or in the 150 normal controls. The affected members exhibited typical ocular and craniofacial anomalies. The results of the present study demonstrated that a novel deletion in exon 1 of the FOXC1 gene caused ARS in this Chinese family.
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