Table 1.
Summary of the CFI mutations identified in the five families
| Patients | Genetic status | cDNA ATG +1 | Protein with signal peptide | Exon | Domain | References |
|---|---|---|---|---|---|---|
| III.1, III.2, III.4 |
He |
c.266-?_536 + ?del |
- |
2 |
- |
Not described |
| V.1, V.2, V.4 |
He |
c.80_81delAT |
p.D27Afs*18 |
2 |
N-terminal |
Not described |
| I.1 |
He |
c.485 G > A |
p.G162D |
4 |
SRCR |
Le Quintrec M. et al. 2008 [17] |
| IV.1, IV.3, IV4, V.1, V.3 |
He |
c.559 C > T |
p.R187X |
4 |
SRCR |
Not described |
| II.1, II.2, II.3 |
Ho He |
c.772 G > A |
p.A258T |
5 |
LDLRA2 |
Vyse et al. 1996 [18] |
| I.1, I.2 |
He |
c.1176_1177dupAT |
p.W393Yfs*5 |
11 |
SP |
Baracho et al. 2003 [19] |
| III.1, III.3, III.4 |
He |
c.1420 C > T |
p.R474X |
11 |
SP |
Fremaux-Bacchi et al. 2004 [20] |
| IV.1, IV.2, IV.4 | He | c.1610_1611insAT | p.V537Vfs*2 | 13 | SP | Not described |
Ho, Homozygote; He, Heterozygote; SRCR, Scavenger Receptor Cysteine Rich domain; LDLRA2, Class A low-density lipoprotein receptor domain 2; SP, Serine. Protease domain.