Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation
Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation
复制标题
DOI：
10.3109/13816810.2011.642452
复制
发表时间：
2012-06
影响因子：
1.2
通讯作者：
Xueshan Xiao;Shi-qiang Li;Qingjiong Zhang
中科院分区：
文献类型：
--
作者：
Xueshan Xiao;Shi-qiang Li;Qingjiong Zhang
常染色体显性小眼畸形伴迟发性角膜炎和虹膜缺损/无虹膜此前尚未有报道。在这里，我们报告了一个具有这些表型和新的 PAX6 突变的中国家族。先证者存在小眼症、迟发性角膜炎、虹膜缺损和眼球震颤。他的儿子患有小眼球、无虹膜、中心凹发育不全和眼球震颤。在先证者及其受影响的儿子中检测到 PAX6 中的新 c.649C>T (p.Arg217X) 突变。这项研究扩大了 PAX6 突变的表型谱，丰富了我们对小眼症和迟发性角膜炎遗传原因的了解。
Autosomal dominant microphthalmia with late-onset keratitis and iris coloboma/aniridia has not been reported before. Here we report a Chinese family with these phenotypes and a novel PAX6 mutation. Microphthalmia, late-onset keratitis, iris coloboma, and nystagmus were present in the proband. His son had microphthalmia, aniridia, foveal hypoplasia, and nystagmus. A novel c.649C>T (p.Arg217X) mutation in PAX6 was detected in the proband and his affected son. This study expands the phenotypic spectrum of PAX6 mutation and enriched our knowledge of the genetic cause for microphthalmia and late-onset keratitis.