在 EPHA2 基因的一个新奇 p.R890C 变化在一个中国家庭把以后的奔流与进步童年联系了

• 作者: Li Zhang Qi Miao Su-Juan Zhao Xing-Chao Shentu
• 来源期刊: 国际眼科杂志：英文版
• 学科: 医学
• 关键词: EPHA2 gene MUTATION POSTERIOR CATARACT
• 年，卷（期）: 2013,（1）
• 页码范围: 34-38
• 页数: 5页
• 分类号: R776.1

摘要

AIM: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. ·CONCLUSION: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.