- Overview
- Congenital cataract
- Anterior segment dysgenesis
- Microphthalmia, anophthalmia, coloboma (MAC)
- References
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 | Ocular |
Therapies under research |
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Further information |
References
- Arora A, Minogue PJ, Liu X, et al. A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts. J Med Genet. 2008;45(3):155‐160
- Berry V, Mackay D, Khaliq S, et al. Connexin 50 mutation in a family with congenital “zonular nuclear” pulverulent cataract of Pakistani origin. Hum Genet. 1999;105(1-2):168‐170
- Gong X, Baldo GJ, Kumar NM, Gilula NB, Mathias RT. Gap junctional coupling in lenses lacking alpha3 connexin. Proc Natl Acad Sci U S A. 1998;95(26):15303‐15308
- Gong X, Li E, Klier G, et al. Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice. Cell. 1997;91(6):833‐843
- Polyakov AV, Shagina IA, Khlebnikova OV, Evgrafov OV. Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. Clin Genet. 2001;60(6):476‐478
- Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S. A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant “zonular pulverulent” cataract, on chromosome 1q. Am J Hum Genet. 1998;62(3):526‐532
- White TW, Goodenough DA, Paul DL. Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts. J Cell Biol. 1998;143(3):815‐825
- Willoughby CE, Arab S, Gandhi R, et al. A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract. J Med Genet. 2003;40(11):e124