Overview
Gene (OMIM No.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) | |
Inheritance |
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Ocular features |
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Systemic features | Axenfeld-Rieger syndrome:
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management | Ocular
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Therapies under research |
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Further information |
References
- Carlsson P, Mahlapuu M. Forkhead transcription factors: key players in development and metabolism. Dev Biol. 2002;250(1):1-23
- Smith RS, Zabaleta A, Kume T, et al. Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development. Hum Mol Genet. 2000;9(7):1021-1032
- Erickson RP. Forkhead genes and human disease. J Appl Genet. 2001;42(2):211-221
- Lehmann OJ, Sowden JC, Carlsson P, Jordan T, Bhattacharya SS. Fox’s in development and disease. Trends Genet. 2003;19(6):339-344
- Berry FB, Lines MA, Oas JM, et al. Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis. Hum Mol Genet. 2006;15(6):905-919
- Lines MA, Kozlowski K, Water MA. Molecular genetics of Axenfeld-Rieger malformations. Hum Mol Genet. 2002;11:1177-1184
- Seo S, Kume T. Forkhead transcription factors, Foxc1 and Foxc2, are required for the morphogenesis of the cardiac outflow tract. Dev Biol. 2006;296(2):421-436
- Aldinger KA, Lehmann OJ, Hudgins L, et al. FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nat Genet. 2009;41(9):1037-1042
- Gould DB, Mears AJ, Pearce WG, Walter MA. Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25. Am J Hum Genet. 1997;61(3):765-768
- Nishimura DY, Swiderski RE, Alward WL, et al. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet. 1998;19(2):140-147
- Gould D, John S. Anterior segment dysgenesis and the developmental glaucomas are complex traits. Hum Mol Genet. 2002;11(10):1185-1193
- Mears AJ, Jordan T, Mirzayans F, et al. Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. Am J Hum Genet. 1998;63(5):1316-1328
- Weisschuh N, Wolf C, Wissinger B, Gramer E. A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters’ anomaly. Clin Genet. 2008;74(5):476-480
- Maclean K, Smith J, St Heaps L, et al. Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome. Am J Med Genet A. 2005;132A(4):381-385
- Lehmann OJ, Ebenezer ND, Ekong R, et al. Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions. Invest Ophthalmol Vis Sci. 2002;43(6):1843-1849
- Cunningham ET, Eliott D, Miller NR, et al. Familial Axenfeld-Rieger Anomaly, Atrial Septal Defect, and Sensorineural Hearing Loss: A Possible New Genetic Syndrome. Arch Ophthalmol. 1998;116(1):78–82
- O’Dwyer EM, Jones DC. Dental anomalies in Axenfeld-Rieger syndrome. Int J Paediatr Dent. 2005;15(6):459-463