title: A novel p.R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family.
abstract: OBJECTIVE
  To identify the genetic defect in a Chinese family with bilateral progressive childhood posterior cataract.
  
  
  METHODS
  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.
  
  
  RESULTS
  All affected individuals presented posterior opacities in the lens. Direct sequencing of the candidate genes showed a heterozygous c. 2668C>T variation in EPHA2 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.
  
  
  CONCLUSIONS
  We report a novel mutation (p. R890C) in the EPHA2 receptor tyrosine kinase gene. The finding expands the mutation spectrum of EPHA2 in association with posterior cataract.
authors: Eye Center of the Second Affiliated Hospital, Medical College of Zhejiang University, Hangzhou 310009, Zhejiang Province, China.
authors: Xing-Chao
authors: XC
authors: Shentu
authors: Su-Juan
authors: SJ
authors: Zhao
authors: Li
authors: L
authors: Zhang
authors: Qi
authors: Q
authors: Miao
keywords: EPHA2; gene mutation; posterior cataract