Table 1 Novel FECH loss-of-function mutations in EPP patients.

Missense mutations

1

M

p.T116P (c.346A>C)

IVS3-48T>C

2

F

p.S151F (c.452C>T)

p.P334L (c.1001C>T)

3

M

p.I206T (c.617T>C)

IVS3-48T>C

4

M

p.R215W (c.643C>T)

p.W301Afs*22 (c.901_902delTG)

5

F

p.M219R (c.656T>G)

IVS3-48T>C

6

M

p.L265R (c.794T>G) and IVS3-48T>C (c.315-48T>C)

IVS3-48T>C

7

M

p.C411Y (c.1232G>A)

IVS3-48T>C

8

M

p.C411F (c.1232G>T)

IVS3-48T>C

Nonsense mutations

9

M

p.W36X (c.107G>A)

IVS3-48T>C

10

M/F

p.Q51X (c.151C>T)

IVS3-48T>C

11

F

p.Q54X (c.160C>T)

IVS3-48T>C

12

M

p.Q193X (c.577C>T) and IVS3-48T>C (c.315-48T>C)

IVS3-48T>C

13

F

p.W227X (c.681G>A)

IVS3-48T>C

14

M/F

p.S264X (c.791C>G)

IVS3-48T>C

15

M/F

p.Q278X (c.832C>T)

IVS3-48T>C

16

M

p.E292X (c.874G>T)

IVS3-48T>C

17

M

p.C411X (c.1233C>A)

IVS3-48T>C

Splice site mutations

18

M

IVS7-1G>C (c.805-1G>C)

IVS3-48T>C

19

M/F

IVS9-1G>A (c.1078-1G>A)

IVS3-48T>C

20

M

IVS10-1G>T (c.1138-1G>T)

IVS3-48T>C

Deletion mutations

21

F

p.W221_S222delinsC (c.663_665delGAG)

IVS3-48T>C

22

F

del exon 3–4 + ins (breakpoints unknown)

IVS3-48T>C

23

F

del exon 7–9 + ins (breakpoints unknown)

IVS3-48T>C