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Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract

Posted by xuezhangpumc on 31 Jul 2009 at 05:46 GMT

We have identified EPHA2 mutations in three families with autosomal dominant congenital cataract (Human Mutation published online: 20 March 2009). Together with this excellent PLoS Genetics paper and a previous PNAS paper by Renping Zhou's group, these works confimed the key role of EPHA2 in the normal lens development and pathogenesis of congenital cataract.

No competing interests declared.