Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis.

摘要: Homozygous type I plasminogen deficiency has been identified as a cause of ligneous conjunctivitis. In this study, 5 additional patients with conjunctivitis are examined. Three unrelated (1 boy, 1 elderly woman, and man) had antigen levels less than 0.4, 2.4 mg/dL, respectively, but functional residual activity 17%, 18%, respectively. These subjects were compound-heterozygotes for different missense mutations in the gene: Lys19 → Glu/Arg513 His, Glu/Arg216 Glu/Leu128 Pro, The other 2 patients, 14-year-old boy his 19-year-old sister, who both presented severe course disease, exhibited below detection limit (