MIR184 gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • An RNA gene that expresses short non-coding regulatory microRNAs (miRNAs)
  • Highly expressed in the cornea and lens
  • Regulates post-transcriptional gene expression by inhibiting translation or promoting degradation of target messenger RNA
  • Exact disease mechanism leading to the ocular phenotypes caused by miR-184 mutations remains unknown
Clinical phenotype
(OMIM phenotype no.)
  • Endothelial Dystrophy, Iris Hypoplasia, Congenital Cataract and Stromal Thinning (EDICT) Syndrome (#614303)
Inheritance
  • Autosomal dominant
Ocular features
  • Corneal abnormalities (keratoconus, microcornea, stromal thinning and endothelial dystrophy)
  • Iris abnormalities (small/eccentric pupils, iris hypoplasia)
  • Early-onset anterior polar cataract
  • Intra- and interfamilial variability
Systemic features
  • No systemic features reported
Key investigations
  • Cycloplegic retinoscopy
  • Scheimpflung imaging (Pentacam) to assess corneal topography and pachymetry
  • Specular and confocal microscopy to assess endothelial architecture
  • Anterior segment OCT can identify any associated anterior chamber angle or iris abnormalities in the presence of corneal haze
Molecular diagnosisNext generation sequencing
  • Targeted gene panels (ASD)
  • Whole exome sequencing
  • Whole genome sequencing
Management
  • Rigid gas permeable contact lens for milder keratoconus cases
  • Corneal grafts (penetrating keratoplasty)
  • Cataract extraction with aphakic contact lens or IOL insertion
  • Monitor for amblyopia development and treat accordingly
Therapies under research
  • None in clinical trials at present
Further information

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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]

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References

  1.  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
  2.  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
  3.  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
  4.  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
  5.  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
  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
  7.  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
  8.  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

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Updated on November 30, 2020
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