EPHA2 gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Protein: Ephrin A2 receptor (EphA2)
  • Functions as a tyrosine kinase receptor for ephrin A ligands, facilitating signaling between neighboring cells
  • When interacting with its ligand ephrin-A5, it regulates lens fiber cell shape in the developing lens
  • Also key in regulating lens transparency
Clinical phenotype
(OMIM phenotype no.)
  • Cataract 6, multiple types (#116600)
Inheritance
  • Autosomal dominant
Ocular features
  • Congenital cataract (posterior polar, posterior subcapsular, persistent foetal vasculature)
  • Age-related cortical cataract
  • Microcornea
  • Phacodenesis
Systemic features
  • Neurodevelopmental delay
  • Mild dysmorphic features
Key investigations
  • B-scan USS to measure axial length to document microphthalmia and detect any posterior segment abnormalities
  • Electrophysiology
  • TORCH screen
  • Systemic assessment with a paediatrician may be required
Molecular diagnosisNext generation sequencing
  • Targeted gene panels (cataract)
  • Whole exome sequencing
  • Whole genome sequencing
ManagementOcularSystemic
  • Multidisciplinary approach
Therapies under research
  • None at present
Further information

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References

  1.  Ganju P, Shigemoto K, Brennan J, Entwistle A, Reith AD. The Eck receptor tyrosine kinase is implicated in pattern formation during gastrulation, hindbrain segmentation and limb development. Oncogene. 1994;9(6):1613‐1624
  2.  Ionides AC, Berry V, Mackay DS, Moore AT, Bhattacharya SS, Shiels A. A locus for autosomal dominant posterior polar cataract on chromosome 1p. Hum Mol Genet. 1997;6(1):47‐51
  3.  Jun G, Guo H, Klein BE, et al. EPHA2 is associated with age-related cortical cataract in mice and humans. PLoS Genet. 2009;5(7):e1000584
  4.  McKay JD, Patterson B, Craig JE, et al. The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes. Br J Ophthalmol. 2005;89(7):831‐834
  5.  Shiels A, Bennett TM, Knopf HL, et al. The EPHA2 gene is associated with cataracts linked to chromosome 1p. Mol Vis. 2008;14:2042‐2055
  6.  Zhang T, Hua R, Xiao W, et al. Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. Hum Mutat. 2009;30(5):E603‐E611

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Updated on November 30, 2020
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