Table 1 Summary of the CFI mutations identified in the five families

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