LMAN1 and MCFD2 mutation analyses, geographic origins, and FV/FVIII levels in F5F8D patients
Patient . | Origin . | FV/FVIII levels, U/dL . | LMAN1 mutation . | MCFD2 mutation . | Reference . |
|---|---|---|---|---|---|
| B2 | Japan* | 11/19 | None | None | 3 in Nichols et al5 |
| B3 | Italy* | 2.3/6.3 | None | 149+5G>A | 5 in Nichols et al5 |
| B4-1 | Italy | 7.5/6.0 | None | 149+5G>A | 6 in Nichols et al5 |
| B4-2 | Italy | 10/10 | None | 149+5G>A | 6 in Nichols et al5 |
| B5 | Italy | 11/23 | None | 149+5G>A | 8 in Nichols et al5 |
| B6 | Iran* | 10/6 | None | –6–IG>C | A14 in Neerman-Arbez et al4 |
| B7 | Italy | 8/24 | None | None | A22 in Neerman-Arbez et al4 |
| B8 | Italy | VWD | None | N/A | A33 in Neerman-Arbez et al4 |
| B9 | Kosovo | 4.5/1.5 | N/A | 407T>C (I136T) | This study |
| B10 | Serbia | 7/7 | N/A | 149+5G>A | This study |
| B11 | Italy | 13/20 | 2T>C (M1T) | None | This study |
| B12-1 | Austria | 15/12 | 780delT | None | This study |
| B12-2 | Austria | 24/13 | 780delT | None | This study |
| B13 | Iraq | 14/25 | G961>T (E321X) | None | This study |
| B14 | Poland* | 16/23 | 839-841delA | None | This study |
| B15 | Belgium | 11/35 | 822+1G>A | None | This study |
| B16 | USA | 23/24 | 822+33insGGTT†‡ | None | This study |
| B17 | Argentina | 18/23 | 1423T>C (C475R)‡ | None | This study |
| B18 | Greece | 7/5 | None | 266A>C (D89A) | This study |
Patient . | Origin . | FV/FVIII levels, U/dL . | LMAN1 mutation . | MCFD2 mutation . | Reference . |
|---|---|---|---|---|---|
| B2 | Japan* | 11/19 | None | None | 3 in Nichols et al5 |
| B3 | Italy* | 2.3/6.3 | None | 149+5G>A | 5 in Nichols et al5 |
| B4-1 | Italy | 7.5/6.0 | None | 149+5G>A | 6 in Nichols et al5 |
| B4-2 | Italy | 10/10 | None | 149+5G>A | 6 in Nichols et al5 |
| B5 | Italy | 11/23 | None | 149+5G>A | 8 in Nichols et al5 |
| B6 | Iran* | 10/6 | None | –6–IG>C | A14 in Neerman-Arbez et al4 |
| B7 | Italy | 8/24 | None | None | A22 in Neerman-Arbez et al4 |
| B8 | Italy | VWD | None | N/A | A33 in Neerman-Arbez et al4 |
| B9 | Kosovo | 4.5/1.5 | N/A | 407T>C (I136T) | This study |
| B10 | Serbia | 7/7 | N/A | 149+5G>A | This study |
| B11 | Italy | 13/20 | 2T>C (M1T) | None | This study |
| B12-1 | Austria | 15/12 | 780delT | None | This study |
| B12-2 | Austria | 24/13 | 780delT | None | This study |
| B13 | Iraq | 14/25 | G961>T (E321X) | None | This study |
| B14 | Poland* | 16/23 | 839-841delA | None | This study |
| B15 | Belgium | 11/35 | 822+1G>A | None | This study |
| B16 | USA | 23/24 | 822+33insGGTT†‡ | None | This study |
| B17 | Argentina | 18/23 | 1423T>C (C475R)‡ | None | This study |
| B18 | Greece | 7/5 | None | 266A>C (D89A) | This study |
None indicates no mutations detected; VWD, von Willebrand disease; and N/A, not analyzed.
Nucleotide numberings are relative to the initiation codon of GenBank sequences NM_005570 for LMAN1 and NM_139279 for MCFD2.
Known consanguinity
Patient is heterozygous for this mutation with no mutation detected on the other allele
Cause-effect relationship not established for this intronic mutation