A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome.

Purpose: To report a case series of patients with novel forkhead box CI (FOXC1) mutations in a Korean family with Axenfeld-Rieger syndrome (ARS).

Methods: Four members of the same family underwent complete ophthalmologic and systemic examinations and genetic analysis. Genomic DNA was isolated from peripheral blood leukocytes, and all coding exons with flanking intronic regions of the FOXC1 and pituitary homeobox 2 genes were amplified using PCR, and sequenced.

Results: The patients were 40, 12, 11, and 10 years old (father, son, and two sisters, respectively). All four had uncontrolled intraocular pressure, glaucomatous visual field defect, retinal nerve fiber layer defect, iridocorneal adhesion on gonioscopy, hypoplasia and marked atrophy of the iris, flattening of the midface, and broad flat noses. A diagnosis of ARS was made based on characteristic ocular and systemic traits. A novel FOXC mutation, c.317delA, was identified in all affected members of the family with ARS.

Conclusions: We found a novel c.317delA mutation in FOXC1 in a Korean family with ARS. We suggest that this FOXC1 mutation causes typical ARS, and that our results may be useful for better understanding of the spectrum of FOXC1 mutations and the role of FOXC1 in the development and progression of ARS.