A novel p.R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family

• Main Author: Xing-Chao Shentu
• Format: Article
• Language: English
• Published: Press of International Journal of Ophthalmology (IJO PRESS) 2013-02-01
• Series: International Journal of Ophthalmology
• Subjects: EPHA2; gene mutation; posterior cataract
• Online Access: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3580246/

<b>AIM:</b>To identify the genetic defect in a Chinese family with bilateral progressive childhood posterior cataract.<b>METHODS:</b> A two-generation family was recruited in this study. Family history and clinical data were recorded. All reported candidate genes associated with congenital posterior cataract were screened by direct DNA sequencing.<b>RESULTS:</b> All affected individuals presented posterior opacities in the lens. Direct sequencing of the candidate genes showed a heterozygous c. 2668C>T variation in <i>EPHA2</i> gene, which resulted in the replacement of arginine by cysteine at codon 890 (p. R890C). This mutation was found in two affected individuals, but was not observed in 200 normal controls.<b>CONCLUSION:</b> We report a novel mutation (p. R890C) in the <i>EPHA2</i> receptor tyrosine kinase gene. The finding expands the mutation spectrum of <i>EPHA2</i> in association with posterior cataract.