Compound-Heterozygous Mutations in the Plasminogen Gene Predispose to the Development of Ligneous Conjunctivitis
Open Access
- 15 May 1999
- journal article
- case report
- Published by American Society of Hematology in Blood
- Vol. 93 (10), 3457-3466
- https://doi.org/10.1182/blood.v93.10.3457.410k03_3457_3466
Abstract
Homozygous type I plasminogen deficiency has been identified as a cause of ligneous conjunctivitis. In this study, 5 additional patients with ligneous conjunctivitis are examined. Three unrelated patients (1 boy, 1 elderly woman, and 1 man) had plasminogen antigen levels of less than 0.4, less than 0.4, and 2.4 mg/dL, respectively, but had plasminogen functional residual activity of 17%, 18%, and 17%, respectively. These subjects were compound-heterozygotes for different missense mutations in the plasminogen gene: Lys19 → Glu/Arg513 → His, Lys19 → Glu/Arg216 → His, and Lys19 → Glu/Leu128 → Pro, respectively. The other 2 patients, a 14-year-old boy and his 19-year-old sister, who both presented with a severe course of the disease, exhibited plasminogen antigen and functional activity levels below the detection limit (212) and a splice site mutation in intron Q (Ex17 + 1del-g) in the plasminogen gene. These findings show that certain compound-heterozygous mutations in the plasminogen gene may be associated with ligneous conjunctivitis. Our findings also suggest that the severity of clinical symptoms of ligneous conjunctivitis and its associated complications may depend on the amount of plasminogen functional residual activity.This publication has 40 references indexed in Scilit:
- Homozygous Type I Plasminogen DeficiencySeminars in Thrombosis and Hemostasis, 1997
- The Recurring Evolution of Lipoprotein(a)Online Journal of Public Health Informatics, 1995
- Plasminogen with type-I mutation in the Chinese Han populationClinical Genetics, 1994
- DysplasminogenemiasProgress in Cardiovascular Diseases, 1992
- Characterization of the cDNA coding for mouse plasminogen and localization of the gene to mouse chromosome 17Genomics, 1990
- Morphologische Untersuchungen zur Pathogenese der Conjunctivitis lignosaKlinische Monatsblätter für Augenheilkunde, 1987
- Complete amino acid sequence of bovine plasminogenJBIC Journal of Biological Inorganic Chemistry, 1985
- Determination of the complete amino‐acid sequence of porcine miniplasminogenJBIC Journal of Biological Inorganic Chemistry, 1985
- Characterization of a complementary deoxyribonucleic acid coding for human and bovine plasminogenBiochemistry, 1984
- Comparison of the Primary Structure of the N-Terminal CNBr Fragments of Human, Bovine and Porcine PlasminogenJBIC Journal of Biological Inorganic Chemistry, 1981