1. Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients.
- Author
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Kawase C, Kawase K, Taniguchi T, Sugiyama K, Yamamoto T, Kitazawa Y, Alward WL, Stone EM, Nishimura DY, and Sheffield VC
- Subjects
- Adolescent, Amino Acid Sequence, Base Sequence, Child, DNA Mutational Analysis, Eye Abnormalities ethnology, Eye Abnormalities surgery, Female, Forkhead Transcription Factors, Glaucoma ethnology, Glaucoma surgery, Humans, Infant, Intraocular Pressure, Japan epidemiology, Male, Molecular Sequence Data, Pedigree, Polymorphism, Single-Stranded Conformational, Syndrome, Anterior Eye Segment abnormalities, DNA-Binding Proteins, Eye Abnormalities genetics, Glaucoma genetics, Iris abnormalities, Mutation, Transcription Factors genetics
- Abstract
Purpose: Mutations in the forkhead transcription factor gene (FOXC1) have been recently shown to cause some cases of juvenile glaucoma associated with a variety of anterior-segment anomalies. The purpose of this study was to investigate the clinical features of Axenfeld-Rieger syndrome caused by FOXC1 mutations in Japanese patients., Patients and Methods: After informed consent was obtained, genomic DNA was isolated from peripheral blood. The DNA-sequence changes were analyzed using single-strand conformation polymorphism analysis and automated sequencing in six Japanese probands with Axenfeld-Rieger syndrome., Results: The authors identified four mutations: pedigree 1 (26-47ins22), 2 (Ile91Ser), 3 (286ins1), and 4 (Arg127His). Two pedigrees showed new mutations in FOXC1. In pedigrees 1,2, and 4, younger generations had iris hypoplasia with severe early-onset glaucoma, whereas their parents had posterior embryotoxon without glaucoma. Pedigree 3 had a single affected person with iris hypoplasia and posterior embryotoxon with a mild increase of intraocular pressure., Conclusion: Four different FOXC1 mutations were found in four of six Japanese pedigrees with Axenfeld-Rieger syndrome. This was a new mutation in two pedigrees that was not found in earlier generations. This study confirms that mutations in this gene cause maldevelopment of the anterior segment of the eye.
- Published
- 2001
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