Recessive mutations in zinc finger protein 469 (ZNF469) cause the brittle cornea syndrome (Mendelian Inheritance in Man #229200), characterized by fragile thin ectatic corneas that are easily ruptured, blue sclera, and extraocular skeletal and/ or connective tissue manifestations (e.g., frail skin, scoliosis, joint laxity, hearing loss).13 In all children and particularly in adults confirmed to be homozy-gous for one of four reported ZNF469 mutations,1"3 there were clinically-evident extraocular skeletal and/ or connective tissue manifestations. We document a novel homozygous ZNF469 mutation in an adult with corneal fragility but lacking clinical evidence for extraocular manifestations.
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机译：锌指蛋白469（ZNF469）的隐性突变会导致脆性角膜综合征（Mendelian Inheritance in Man＃229200），其特征是易破裂的脆弱的薄直肠角膜，蓝色巩膜，眼外骨骼和/或结缔组织表现（例如， 13确诊为四个报告的ZNF469突变之一的纯合子的所有儿童，尤其是成年人，[1] [3]在临床上明显存在眼外骨骼和/或结缔组织的表现我们在具有角膜脆性但缺乏眼外表现的临床证据的成年人中记录了一种新型的纯合ZNF469突变。
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