Table 3. Molecular data of the four families with plasminogen deficiency.
| Family | Relationship to proband | Plasminogen activity (%)* |
PLG mutations |
Major mutations involved in thrombotic risk† | ||||
|---|---|---|---|---|---|---|---|---|
| Exon | Nucleotide change | Amino acid change | Genotype | MAF (%) | ||||
| A | Proband | 24 | 2 | c.112 A>G | p.Lys38Glu | Compound het in trans | 0.27 | — |
| 18 | c.2134 G>A | p.Gly712Arg | 0 | — | ||||
| Son | 67 | 2 | c.112 A>G | p.Lys38Glu | Het | 0.27 | — | |
| Son | 58 | 18 | c.2134 G>A | p.Gly712Arg | Het | 0 | — | |
| B | Proband | 47 | 2 | c.112 A>G | p.Lys38Glu | Het | 0.27 | — |
| Mother | 67 | 2 | c.112 A>G | p.Lys38Glu | Het | 0.27 | — | |
| Daughter | 50 | 2 | c.112 A>G | p.Lys38Glu | Het | 0.27 | — | |
| Sibling | 58 | 2 | c.112 A>G | p.Lys38Glu | Het | 0.27 | — | |
| Sibling | 82 | Non-carrier | Non-carrier | Non-carrier | Non-carrier | — | ||
| C | Proband | 68 | 7 | c.781 C>T | p.Arg261Cys | Het | 0 | — |
| Sibling | 64 | 7 | c.781 C>T | p.Arg261Cys | Het | 0 | — | |
| Mother | 64 | 7 | c.781 C>T | p.Arg261Cys | Het | 0 | — | |
| Maternal aunt | 101 | Non-carrier | Non-carrier | Non-carrier | Non-carrier | 0 | — | |
| D | Proband | 55 | 1 | c.12 G>A | p.Lys4Lys | Compound het | 0 | F12 (c.-4T>T) |
| — | c.1878-6 T>C | — | 0.14 | F13 (c.103 G>G) | ||||
MAF: minor allele frequency from all populations of 1000 genomes data (April 2012 v.3; www.1000genomes.org)16; Het:: heterozygous.
*Normal range of plasminogen activity: 72% to 127%.
†Gene (nucleotide change).