Abstract
BackgroundAxenfeld–Rieger syndrome (ARS) is a rare autosomal dominant hereditary disease characterized primarily by maldevelopment of the anterior segment of both eyes, accompanied by developmental glaucoma, and other congenital anomalies. FOXC1 and PITX2 genes play important roles in the development of ARS.Case presentationThe present report describes a 7-year-old boy with iris dysplasia, displaced pupils, and congenital glaucoma in both eyes. The patient presented with a congenital atrial septal defect and sublingual cyst. The patient’s family has no clinical manifestations. Next generation sequencing identified a pathogenic heterozygous missense variant in FOXC1 gene (NM_001453:c. 246C>A, p. S82R) in the patient. Sanger sequencing confirmed this result, and this mutation was not detected in the other three family members.ConclusionTo the best of our knowledge, the results of our study reveal a novel mutation in the FOXC1 gene associated with ARS.
Highlights
Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant hereditary disease characterized primarily by maldevelopment of the anterior segment of both eyes, accompanied by developmental glaucoma, and other congenital anomalies
To the best of our knowledge, the results of our study reveal a novel mutation in the forkhead box C1 (FOXC1) gene associated with ARS
Individuals with pituitary homeobox 2 (PITX2) variants are more likely to have systemic features than individuals with FOXC1 variants, and mutations in the FOXC1 genes always associated with type 3 ARS [1, 6]
Summary
Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant hereditary disease characterized primarily by maldevelopment of the anterior segment of both eyes, accompanied by developmental glaucoma, and other congenital anomalies. Conclusion: To the best of our knowledge, the results of our study reveal a novel mutation in the FOXC1 gene associated with ARS. Individuals with PITX2 variants are more likely to have systemic features than individuals with FOXC1 variants, and mutations in the FOXC1 genes always associated with type 3 ARS [1, 6].
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