A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract

Vanita Berry, Nikolas Pontikos, Monica Albarca-Aguilera, Vincent Plagnol, Andreas Massouras, DeQuincy Prescott, Anthony T. Moore, Gavin Arno, Michael E. Cheetham, Michel Michaelides
2017 Ophthalmic Genetics  
Intoduction: Inherited cataract, opacification of the lens, is the most common worldwide cause of blindness in children. We aimed to identify the genetic cause of autosomal dominant posterior nuclear cataract in a four generation British family. Methods: Whole genome sequence (WGS) was performed on two affected and one unaffected individual of the family and further validated by direct sequencing. Haplotype analysis was performed via genotying. Results: A splice-site mutation c.2826-9G>A in the
more » ... c.2826-9G>A in the gene EPHA2, encoding EPH receptor A2 was identified and found to co-segregate with disease. Conclusions: We have identified a recurrent splice-site mutation c.2826-9G>A in EPHA2 causing isolated posterior nuclear cataract, providing evidence of further phenotypic heterogeneity associated with this variant.
doi:10.1080/13816810.2017.1381977 pmid:29039721 fatcat:dsd3c7hrqnaejbe6rk4gbl67rq