EPHA2 gene

Overview

Gene (OMIM No.)	EPHA2 (#176946)
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 diagnosis	Next generation sequencing Targeted gene panels (cataract) Whole exome sequencing Whole genome sequencing
Management	Ocular Management of congenital cataract Systemic Multidisciplinary approach
Therapies under research	None at present
Further information	OMIM

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
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
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
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
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
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

Updated on November 30, 2020