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Table 5 List of sequence variations detected in patients with ARCI and literature references

From: Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis

ARCI

Target Gene

Sample ID

Variation 1

Variation 2

Note and references

NIPAL4

ID-1

c.527 C > A, p.A176D

c.527 C > A, p.A176D

[10]

ID-2

c.527 C > A, p.A176D

c.527 C > A, p.A176D

[10]

ID-3

c.527 C > A, p.A176D

c.527 C > A, p.A176D

[10]

ID-4

c.527 C > A, p.A176D

deletion

[10]

ALOX12B

ID-5

c.1594 G > C, p.E532Q

c.130_131delGA, p.D44LfsX19

npd-npd

ID-6

c.1002delG, p.Q334HfsX18

c.1579 G > A, p.V527M

npd - [11]

ID-7

c.1412 T > C, p.L471P

c.1412 T > C, p.L471P

npd

ID-8

c.1261 C > T, p.H421Y

c.1261 C > T, p.H421Y

[11]

ID-9

c.71 T > C, p.L24P

c.1324 C > T, p.R442W

npd - npd

ID-10

c.527 + 1G > A

c.340 C > T, p.R114W

npd - [12]

ID-11

c.1384G > A,p.G462S

c.1384G > A,p.G462S

Npd

ID-12

c.1192C > T,p.H398Y

c.1192C > T,p.H398Y

Npd

ID-13

c.1192C > T,p.H398Y

c.1821 C > G, p.K607N

npd – npd

CYP4F22

ID-14

c.728 g > a. p.R243H

c.1084 C > T, p.R362X

[13] - npd

ID-15

c.367 + 1G > A

c.1303C > T, p.H435Y

npd - [13]

TGM1

ID-16

c.814 T > C, p.S272P

c.877-2 A > G

[14, 15]

ID-17

c.877-2 A > G

c.877-2 A > G

[15]

ID-18

c.1187 G > A, p.R396H

c.919 C > G, p.R307G

[316]

ID-19

c.919C > G,p.R307G

c.919C > G,p.R307G

[16]

ID-20

c.788G > A,p.W263X

c.788G > A,p.W263X

[17]

ID-21

c.401A > G,p.Y134C

c.401A > G,p.Y134C

[3]

ID-22

c.1306C > G, p.H436D

c.1306C > G, p.H436D

npd - npd

ALOXE3

ID-23

c.1027C > T,p.R343X

c.2285C > T,p.P762L

npd - [12]

ID-24

c.543 + 5delG

c.2461 C > T, p.R821W

npd – npd

ABCA12

ID-25

c.7105-2delA

c.7105-2delA

Npd

ID-26

c.459T > G, p.Y153X

c.4579 + 5 G > A

npd – npd

ID-27

c.4139 A > G, p.N1380S

c.6305dupA, p.Y2102X

[18] - npd

/

ID-28

neg

  

/

ID-29

neg

  

/

ID-30

neg.

  

/

ID-31

neg

  
  1. npd not previously described, neg negative