Table 1 Allelic variants identified in the EDA gene

10

F

Gene deletion

Complete

(−)

Gene loss

Deletion

De novo

HED

[22]

13

M

c.58C > T

Exon 1

p.Arg20Ter

Transmembrane domain

Nonsense

Inherited

HED

[23]

26

M

c.164 T > C

Exon 1

p.Leu55Pro

Transmembrane domain

Missense

Inherited

HED

Novel

20

M

Exon 1 deletion

Exon 1

(−)

Complete protein loss

Deletion

Inherited

HED

[24]

33

F

Exon 1 deletion

Exon 1

(−)

Complete protein loss

Deletion

De novo

HED

[24]

35

M

c.457C > T

Exon 2

p.Arg153Cys

Furin subdomain

Missense

De novo

HED

[25]

34

M

c.463C > T

Exon 2

p.Arg155Cys

Furin subdomain

Missense

De novo

HED

[26]

45

M

c.467G > A

Exon 2

p.Arg156His

Furin cleavage site

Missense

Inherited

HED

[26]

47

M

c.467G > A

Exon 2

p.Arg156His

Furin cleavage site

Missense

Inherited

HED

[26]

31

F

c.516delC

Exon 3

p.Asn172Lysfs*108

(−)

Frame Shift

De novo

HED

Novel

17

M

c.546_581del36

Exon 4

p.Asn185_Pro196del

Collagen-like domain

In-Frame Deletion

Inherited

HED

[26]

37

M

c.553_588del36

Exon 4

p.Asn185_Pro196del

Collagen-like domain

In-Frame Deletion

Inherited

HED

[27]

21

M

c.572_589del18

Exon 4

p.Pro191_Pro196del

Collagen-like domain

In-Frame Deletion

Inherited

HED

[28]

23

M

c.572_589del18

Exon 4

p.Pro191_Pro196del

Collagen-like domain

In-Frame Deletion

Inherited

HED

[28]

48

M

c.572_589del18

Exon 4

p.Pro191_Pro196del

Collagen-like domain

In-Frame Deletion

Inherited

HED

[28]

50

M

c.599C > G

Exon 4

p.Pro200Arg

Collagen-like domain

Missense

Inherited

HED

Novel

36

F

c.612delG

Exon 4

(−)

Collagen-like domain

Frame Shift

De novo

HED

Novel

02

M

c.612_629del18

Exon 4

p.Ile205_Gly210del

Collagen-like domain

In-Frame Deletion

Inherited

HED

[29]

06

M

c.653G > T

Exon 4

p.Gly218Val

Collagen-like domain

Missense

Inherited

HED

[30]

01

M

c.663_697del35

Exon 4

p.Pro222Thrfs*

Collagen-like domain

Frame Shift

Inherited

HED

[26]

29

M

c. 728_735del8

Exon 5

p.Thr243Lysfs*20

(−)

Frame Shift

De novo

HED

[24]

11

F

c.729_735del7

Exon 5

p.Arg244Thrfs*34

(−)

Frame Shift

Inherited

HED

Novel

14

M

c.760C > T

Exon 6

p.Gln254*

TNF homology domain

Nonsense

De novo

HED

Novel

22

M

c.793 + 1G > C

Intron 6

(−)

TNF homology domain

Splicing

Inherited

HED

[25]

51

M

c.866G > A

Exon7

p.Gly289His

TNF homology domain

Missense

ND

NSTA

[31]

15

F

c.871G > C

Exon 7

p.Gly291Arg

TNF homology domain

Missense

Inherited

HED

Novel [28](#)

16

F

c.880G > T

Exon 7

p.Glu294Ter

TNF homology domain

Nonsense

De novo

HED

Novel

07

M

c.892G > T

Exon 7

p.Asp298Tyr

TNF homology domain

Missense

Inherited

HED

[32]

08

M

c.895G > A

Exon 7

p.Gly299Ser

TNF homology domain

Missense

Inherited

HED

[26]

09

M

c.895G > C

Exon 7

p.Gly299Arg

TNF homology domain

Missense

Inherited

HED

[33]

03

M

c.995G > A

Exon 8

p.Cys332Tyr

TNF homology domain

Missense

Inherited

HED

[24]

30

M

c.1027 T > G

Exon 8

p.Tyr343Asp

TNF homology domain

Missense

Inherited

HED

Novel

19

M

c.1037G > A

Exon 8

p.Cys346Tyr

TNF homology domain

Missense

Inherited

HED

[7]

24

M

c.1045G > A

Exon 8

p.Ala349Thr

TNF homology domain

Missense

Inherited

HED

[26]

04

M

c.1045G > A

Exon 8

p.Ala349Thr

TNF homology domain

Missense

Inherited

HED

[26]

32

M

c.1049G > A

Exon 8

p.Gly350Asp

TNF homology domain

Missense

Inherited

HED

[34]

25

M

c.1069C > T

Exon 8

p.Arg357Trp

TNF homology domain

Missense

Inherited

HED

[29]