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http://purl.uniprot.org/citations/11740218http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11740218http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11740218http://www.w3.org/2000/01/rdf-schema#comment"

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."xsd:string
http://purl.uniprot.org/citations/11740218http://purl.org/dc/terms/identifier"doi:10.1097/00061198-200112000-00007"xsd:string
http://purl.uniprot.org/citations/11740218http://purl.org/dc/terms/identifier"doi:10.1097/00061198-200112000-00007"xsd:string
http://purl.uniprot.org/citations/11740218http://purl.uniprot.org/core/author"Sugiyama K."xsd:string
http://purl.uniprot.org/citations/11740218http://purl.uniprot.org/core/author"Sugiyama K."xsd:string
http://purl.uniprot.org/citations/11740218http://purl.uniprot.org/core/author"Yamamoto T."xsd:string
http://purl.uniprot.org/citations/11740218http://purl.uniprot.org/core/author"Yamamoto T."xsd:string
http://purl.uniprot.org/citations/11740218http://purl.uniprot.org/core/author"Taniguchi T."xsd:string
http://purl.uniprot.org/citations/11740218http://purl.uniprot.org/core/author"Taniguchi T."xsd:string
http://purl.uniprot.org/citations/11740218http://purl.uniprot.org/core/author"Sheffield V.C."xsd:string
http://purl.uniprot.org/citations/11740218http://purl.uniprot.org/core/author"Sheffield V.C."xsd:string
http://purl.uniprot.org/citations/11740218http://purl.uniprot.org/core/author"Stone E.M."xsd:string
http://purl.uniprot.org/citations/11740218http://purl.uniprot.org/core/author"Stone E.M."xsd:string
http://purl.uniprot.org/citations/11740218http://purl.uniprot.org/core/author"Nishimura D.Y."xsd:string
http://purl.uniprot.org/citations/11740218http://purl.uniprot.org/core/author"Nishimura D.Y."xsd:string
http://purl.uniprot.org/citations/11740218http://purl.uniprot.org/core/author"Kawase K."xsd:string
http://purl.uniprot.org/citations/11740218http://purl.uniprot.org/core/author"Kawase K."xsd:string
http://purl.uniprot.org/citations/11740218http://purl.uniprot.org/core/author"Kitazawa Y."xsd:string
http://purl.uniprot.org/citations/11740218http://purl.uniprot.org/core/author"Kitazawa Y."xsd:string
http://purl.uniprot.org/citations/11740218http://purl.uniprot.org/core/author"Alward W.L."xsd:string
http://purl.uniprot.org/citations/11740218http://purl.uniprot.org/core/author"Alward W.L."xsd:string
http://purl.uniprot.org/citations/11740218http://purl.uniprot.org/core/author"Kawase C."xsd:string
http://purl.uniprot.org/citations/11740218http://purl.uniprot.org/core/author"Kawase C."xsd:string
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