Hemostasis Parameters and Molecular Genetic Findings in Two Families With Ligneous Conjunctivitis
Subjects . | Fibrinogen (mg/dL)* . | t-PA (ng/mL)† . | PAI-1 (U/mL)‡ . | Plasminogen Activity (%)ρ . | Plasminogen Antigen . | Mutations in the Plasminogen Gene . |
---|---|---|---|---|---|---|
. | . | . | . | . | (mg/dL)1-154 . | First Allele/Second Allele . |
Family 1 | ||||||
Patient 1 (II-1) | 346 | 5.0 | 10.6 | 6.0 | <0.4 | Arg216 → His/Arg216 → His |
Mother (I-1) | 249 | 3.0 | 3.5 | 66 | 2 | Arg216 → His/Wild type |
Father (I-2) | 306 | 6.2 | 3.0 | 60 | 7 | Arg216 → His/Wild type |
Sister (II-2) | 289 | 3.6 | 8.0 | 76 | 7.5 | Arg216 → His/Wild type |
Family 2 | ||||||
Patient 2 (II-1) | 400 | 2.0 | 3.1 | <5 | <0.4 | Trp597 → Stop/Trp597 → Stop |
Mother (I-1) | 250 | 3.7 | 3.1 | 60 | 5.2 | Trp597 → Stop/Wild type |
Father (I-2) | 240 | 1.1 | 3.1 | 15 | 1.2 | Trp597 → Stop/Trp597 → Cys |
Sister (II-2) | 330 | 2.0 | 0.89 | 66 | 6.9 | Wild type/Trp597 → Cys |
Subjects . | Fibrinogen (mg/dL)* . | t-PA (ng/mL)† . | PAI-1 (U/mL)‡ . | Plasminogen Activity (%)ρ . | Plasminogen Antigen . | Mutations in the Plasminogen Gene . |
---|---|---|---|---|---|---|
. | . | . | . | . | (mg/dL)1-154 . | First Allele/Second Allele . |
Family 1 | ||||||
Patient 1 (II-1) | 346 | 5.0 | 10.6 | 6.0 | <0.4 | Arg216 → His/Arg216 → His |
Mother (I-1) | 249 | 3.0 | 3.5 | 66 | 2 | Arg216 → His/Wild type |
Father (I-2) | 306 | 6.2 | 3.0 | 60 | 7 | Arg216 → His/Wild type |
Sister (II-2) | 289 | 3.6 | 8.0 | 76 | 7.5 | Arg216 → His/Wild type |
Family 2 | ||||||
Patient 2 (II-1) | 400 | 2.0 | 3.1 | <5 | <0.4 | Trp597 → Stop/Trp597 → Stop |
Mother (I-1) | 250 | 3.7 | 3.1 | 60 | 5.2 | Trp597 → Stop/Wild type |
Father (I-2) | 240 | 1.1 | 3.1 | 15 | 1.2 | Trp597 → Stop/Trp597 → Cys |
Sister (II-2) | 330 | 2.0 | 0.89 | 66 | 6.9 | Wild type/Trp597 → Cys |