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 | |
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 | ||
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 |