Plasminogen Values in Plasma and Molecular Genetic Findings in Five Patients With Ligneous Conjunctivitis and One Healthy Female With Heterozygous Type I Plasminogen Deficiency
| Subjects . | t-PA (ng/mL)* . | u-PA (ng/mL)† . | Plasminogen Activity (%)‡ . | Plasminogen Antigen (mg/dL)2-153 . | Mutations in the Plasminogen Gene . | ||
|---|---|---|---|---|---|---|---|
| First Allele . | / . | Second Allele . | |||||
| Patient no. 1 (male) | 0.8 | 1.1 | 17 | <0.4 | Lys19 → Glu | / | Arg513 → His |
| Mother | 0.9 | 0.7 | 54 | 7 | Wild-type | / | Arg513 → His |
| Father | 4.5 | 0.8 | 88 | 9 | Lys19 → Glu | / | Wild-type |
| Brother | 0.3 | 1.7 | 121 | 15 | Wild-type | / | Wild-type |
| Patient no. 2 (female) | 12 | 0.9 | 18 | <0.4 | Lys19 → Glu | / | Arg216 → His |
| Patient no. 3 (female) | 4.3 | 1.4 | <5 | <0.4 | del Lys2122-155 | / | Ex17 + 1del-g2-154 |
| Patient no. 4 (male) | 4.4 | 6.3 | <5 | <0.4 | del Lys212 | / | Ex17 + 1del-g |
| Mother | 6.2 | 1.0 | 52 | 6 | del Lys212 | / | Wild-type |
| Father | 3.2 | 1.9 | 52 | 12 | Ex17 + 1del-g | / | Wild-type |
| Patient no. 5 (male) | 3.8 | 1.7 | 17 | 2.4 | Lys19 → Glu | / | Leu128 → Pro |
| Mother | 0.3 | 0.8 | 57 | 7 | Wild-type | / | Leu128 → Pro |
| Father | 7 | 1.0 | 70 | 14 | Lys19 → Glu | / | Wild-type |
| Subject H (female) | 3 | 1.0 | 57 | 7.5 | Thr9 → Asn | / | Wild-type |
| Subjects . | t-PA (ng/mL)* . | u-PA (ng/mL)† . | Plasminogen Activity (%)‡ . | Plasminogen Antigen (mg/dL)2-153 . | Mutations in the Plasminogen Gene . | ||
|---|---|---|---|---|---|---|---|
| First Allele . | / . | Second Allele . | |||||
| Patient no. 1 (male) | 0.8 | 1.1 | 17 | <0.4 | Lys19 → Glu | / | Arg513 → His |
| Mother | 0.9 | 0.7 | 54 | 7 | Wild-type | / | Arg513 → His |
| Father | 4.5 | 0.8 | 88 | 9 | Lys19 → Glu | / | Wild-type |
| Brother | 0.3 | 1.7 | 121 | 15 | Wild-type | / | Wild-type |
| Patient no. 2 (female) | 12 | 0.9 | 18 | <0.4 | Lys19 → Glu | / | Arg216 → His |
| Patient no. 3 (female) | 4.3 | 1.4 | <5 | <0.4 | del Lys2122-155 | / | Ex17 + 1del-g2-154 |
| Patient no. 4 (male) | 4.4 | 6.3 | <5 | <0.4 | del Lys212 | / | Ex17 + 1del-g |
| Mother | 6.2 | 1.0 | 52 | 6 | del Lys212 | / | Wild-type |
| Father | 3.2 | 1.9 | 52 | 12 | Ex17 + 1del-g | / | Wild-type |
| Patient no. 5 (male) | 3.8 | 1.7 | 17 | 2.4 | Lys19 → Glu | / | Leu128 → Pro |
| Mother | 0.3 | 0.8 | 57 | 7 | Wild-type | / | Leu128 → Pro |
| Father | 7 | 1.0 | 70 | 14 | Lys19 → Glu | / | Wild-type |
| Subject H (female) | 3 | 1.0 | 57 | 7.5 | Thr9 → Asn | / | Wild-type |
Tissue-type plasminogen activator (normal range, 0.3 to 12 ng/mL).
Urokinase-type plasminogen activator (normal range, 0.6 to 7 ng/mL).
Plasminogen activity (normal range, 80% to 120%).
Plasminogen antigen (normal range, 6 to 25 mg/dL).
Deletion of amino acid lysine at position 212.
Deletion of a guanosine at position +1 in intron Q (name of mutation: Ex17 + 1del-g).