Overview
Gene (OMIM No.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) |
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Inheritance |
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Ocular features |
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Systemic features |
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management |
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Therapies under research |
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Further information |
Additional information
All reported cases of EDICT syndrome are attributed to the single base-pair substitution c.57 C>T) in the seed region of miR-184.[1,2,3]
References
- Iliff BW, Riazuddin SA, Gottsch JD. A single-base substitution in the seed region of miR-184 causes EDICT syndrome. Invest Ophthalmol Vis Sci. 2012;53(1):348-353. Published 2012 Jan 25. doi:10.1167/iovs.11-8783
- Hughes AE, Bradley DT, Campbell M, Lechner J, Dash DP, Simpson DA, Willoughby CE. Mutation altering the miR-184 seed region causes familial keratoconus with cataract. Am J Hum Genet. 2011 Nov 11;89(5):628-33
- Bykhovskaya Y, Caiado Canedo AL, Wright KW, Rabinowitz YS. C.57 C > T Mutation in MIR 184 is Responsible for Congenital Cataracts and Corneal Abnormalities in a Five-generation Family from Galicia, Spain. Ophthalmic Genet. 2015;36(3):244-7
- Karamursel Akpek E, Jun AS, Goodman DF, Green WR, Gottsch JD. Clinical and ultrastructural features of a novel hereditary anterior segment dysgenesis. Ophthalmology. 2002;109(3):513-519. doi:10.1016/S0161-6420(01)00975-7
- Hughes AE, Dash DP, Jackson AJ, Frazer DG, Silvestri G. Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes. Invest Ophthalmol Vis Sci. 2003 Dec;44(12):5063-6
- Dash DP, Silvestri G, Hughes AE. Fine mapping of the keratoconus with cataract locus on chromosome 15q and candidate gene analysis. Mol Vis. 2006;12(April):499-505
- Jun AS, Broman KW, Do DV, Akpek EK, Stark WJ, Gottsch JD. Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (edict) syndrome maps to chromosome 15q22.1-q25.3. Am J Ophthalmol. 2002 Aug;134(2):172-6
- Dostie J, Mourelatos Z, Yang M, Sharma A, Dreyfuss G. Erratum: Numerous microRNPs in neuronal cells containing novel microRNAs (RNA (2003) 9 (180-186)). Rna. 2003;9(5):631-632. doi:10.1261/rna.2141503