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 | OcularSystemic
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Therapies under research |
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Further information |
References
- 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