Table 1.
Identified mutations in ABCA12 in patients with ARCI.
| Patient | Age | Sex | Origin/Ethnicity | Consanguinity | Phenotype | Mutation 1 | Mutation 2 |
|---|---|---|---|---|---|---|---|
| 1 | n/a | m | Morocco (North African) | yes | CIE | c.4541G>A, p.(Arg1514His) | c.4541G>A, p.(Arg1514His) |
| 2 | n/a | m | Morocco (North African) | yes | CBB | c.4142G>A, p.(Gly1381Glu) | c.4142G>A, p.(Gly1381Glu) |
| 3 | 33 y | m | Morocco (North African) | yes | CBB | c.4139A>G, p.(Asn1380Ser) | c.4139A>G, p.(Asn1380Ser) |
| 4 | 53 y | f | France (Caucasian) | no | CBB | c.4139A>G, p.(Asn1380Ser) | c.5878C>T, p.(Arg1960*) |
| 5 | 31 y | f | Algeria (North African) | yes | CIE | c.4601C>T, p.(Thr1534Met) | c.4601C>T, p.(Thr1534Met) |
| 6 | 50 y | m | Morocco (North African) | yes | CIE | c.4615G>A, p.(Glu1539Lys) | c.4615G>A, p.(Glu1539Lys) |
| 7 | 27 y | m | Algeria (North African) | yes | CBB | c.4139A>G, p.(Asn1380Ser) | c.4139A>G, p.(Asn1380Ser) |
| 8 | 27 y | f | Morocco (North African) | yes | CBB | c.4139A>G, p.(Asn1380Ser) | c.4139A>G, p.(Asn1380Ser) |
| 9 | 37 y | m | Algeria (North African) | no | CIE | c.4139A>G, p.(Asn1380Ser) | c.4951G>A, p.(Gly1651Ser) |
| 10 | 42 y | f | Algeria (North African) | yes | CIE | c.4951G>A, p.(Gly1651Ser) | c.4951G>A, p.(Gly1651Ser) |
| 11 | 45 y | f | Algeria (North African) | no | CIE | c.4139A>G, p.(Asn1380Ser) | c.3260dup, p.(Leu1088Alafs*4) |
| 12 | 44 y | m | Algeria (North African) | yes | CIE | c.3758T>C, p.(Leu1253Pro) | c.3758T>C, p.(Leu1253Pro) |
| 13 | 24 y | m | Algeria (North African) | yes | CIE | c.4139A>G, p.(Asn1380Ser) | c.4139A>G, p.(Asn1380Ser) |
| 14 | 27 y | m | Tunisia (North African) | yes | CIE | c.4139A>G, p.(Asn1380Ser) | c.4139A>G, p.(Asn1380Ser) |
| 15 | 20 y | f | African | yes | LI | c.4541G>A, p.(Arg1514His) | c.4541G>A, p.(Arg1514His) |
| 16 | 18 y | f | African | yes | LI | c.4541G>A, p.(Arg1514His) | c.4541G>A, p.(Arg1514His) |
| 17 | 17 y | m | France (Caucasian) | no | CIE | c.4139A>G, p.(Asn1380Ser) | c.1792_1801del, p.(Gln598Glyfs*14) |
| 18 | 16 y | f | France (Caucasian) | yes | LI | c.4541G>A, p.(Arg1514His) | c.4541G>A, p.(Arg1514His) |
| 29 | n/a | n/a | Italy | yes | HI | c.859C>T, p.(Arg287*) | c.859C>T, p.(Arg287*) |
| 20 | n/a | n/a | n/a | no | HI | c.4554G>A, p.(Trp1518*) | c.4139A>G, p.(Asn1380Ser) |
| 21 | n/a | n/a | n/a | no | HI | c.7137del, p.(Met2380Cysfs*25) | c.7412G>A, p.(Gly2471Glu) |
| 22 | 52 y | m | Denmark (Caucasian) | no | HI | c.596G>A, p.(Trp199*) | c.1782G>A, p.(Glu594=) splice site mutation |
| 23 | 12 y | f | North African | no | HI | c.3977del, p.(Ser1326Ilefs*41) | c.3977del, p.(Ser1326Ilefs*41) |
| 24 | 11 y | n/a | Germany (Caucasian) | no | HI | c.2972_2988del, p.(Thr991Lysfs*31) | c.5779G>T, p.(Val1927Leu) splice site |
| 25 | n/a | n/a | n/a | yes | HI | c.2486dup, p.(Arg830Glufs*16) | c.2486dup, p.(Arg830Glufs*16) |
| 26 | 13 y | m | Switzerland (Caucasian) | no | CIE | c.2968A>G, p.(Lys990Glu) | c.3276del, p.(Asp1093Thrfs*8) |
| 27 | 26 y | f | n/a | yes | HI | c.3270del, p.(Tyr1090*) | c.3270del, p.(Tyr1090*) |
| 28 | 10 y | f | Lybia (North African) | yes | HI |
c.7222C>T, p.(Pro2408Ser) homozygous |
c.7412G>C, p.(Gly2471Ala) homozygous |
| 29 | 9 y | m | Pakistan | yes | HI | c.7323del, p.(Val2442Serfs*22) | c.7323del, p.(Val2442Serfs*22) |
| 30 | 12 y | m | Sweden (Caucasian) | no | CIE, no CBB | c.3452T>A, p.(Phe1151Tyr) | c.4139A>G, p.(Asn1380Ser) |
| 31 | n/a | m | Turkish | yes | HI | c.4950C>A, p.(Tyr1650*) | c.4950C>A, p.(Tyr1650*) |
| 32 | 9 y | f | Turkish | no | HI | c.179G>C, p.(Arg60Pro) | c.541C>T, p.(Arg181*) |
| 33 | 35 y | m | Germany (Caucasian) | no | LI with PPK | c.4541G>A, p.(Arg1514His) | c.5121_5124del, p.(Asp1707Glufs*6) |
| 34 | 30 y | m | Italy | no | No CBB, erythema, translucent superficial scaling, PPK | c.179G>C, p.(Arg60Pro) | c.4412A>G, p.(His1471Arg) |
| 35 | 9 y | f | Germany (Caucasian) | no | HI | c.2194C>T, p.(Gln732*) | c.3270del, p.(Tyr1090*) |
| 36 | 28 y | m | Germany (Caucasian) | no | HI | c.3829+3A>G, p.? | c.6722_6723del, p.(Arg2241Ilefs*4) |
| 37 | 42 y | f | Lybia (North African) | no | n/a | c.7222C>T, p.(Pro2408Ser) | c.7412G>C, p.(Gly2471Ala) |
| 38 | 49 y | m | n/a | no | n/a | c.7222C>T, p.(Pro2408Ser) | c.7412G>C, p.(Gly2471Ala) |
| 39 | 49 y | m | Germany (Caucasian) | no | No HI | c.2833dup, p.(Arg945Lysfs*15) | c.4540C>T, p.(Arg1514Cys) |
| 40 | 9 y | f | Germany (Caucasian) | no | No HI | c.646_647del, p.(Thr216Profs*19) | c.4139A>G, p.(Asn1380Ser) |
| 41 | 20 y | f | Turkish | yes | LI | c.4139A>G, p.(Asn1380Ser) | c.4139A>G, p.(Asn1380Ser) |
| 42 | 8 y | f | Lebanon | yes | HI | c.3882G>A, p.(Trp1294*) | c.3882G>A, p.(Trp1294*) |
| 43 | n/a | m | Germany (Caucasian) | n/a | HI | c.5787T>G, p.(Tyr1929*) | c.5787T>G, p.(Tyr1929*) |
| 44 | 29 y | m | Turkish | no | CIE | c.859C>T, p.(Arg287*) | c.4139A>G, p.(Asn1380Ser) |
| 45 | 7 y | m | Germany (Caucasian) | no | CIE, mild PPK | c.4540C>T, p.(Arg1514Cys) | c.5848C>T, p.(Arg1950*) |
| 46 | 7 y | m | Turkish | no | HI | c.4512_4515del, p.(Glu1504Aspfs*39) | c.4512_4515del, p.(Glu1504Aspfs*39) |
| 47 | 17 y | m | Germany (Caucasian) | no | Mild HI | c.2251_2252delinsT, p.(Gly751Serfs*8) | c.3456G>A, p.(Ser1152=) splice site mutation |
| 48 | 16 y | f | Senegal (African) | yes | LI | c.4541G>A, p.(Arg1514His) | c.4541G>A, p.(Arg1514His) |
| 49 | 38 y | m | France (Caucasian) | no | CIE | c.178C>T, p.(Arg60*) | c.4139A>G, p.(Asn1380Ser) |
| 50 | 40 y | f | France (Caucasian) | no | No HI, arthrogryposis | c.2509del, p.(Glu837Lysfs*14) | c.4139A>G, p.(Asn1380Ser) |
| 51 | 7 y | m | Germany (Caucasian) | no | CIE | c.3179+3_3179+6del, p.? | c.7437-2del, p.? |
| 52 | 7 y | m | n/a | yes | HI | c.6610C>T, p.(Arg2204*) | c.6610C>T, p.(Arg2204*) |
| 53 | 14 y | m | Germany (Caucasian) | no | CIE with PPK and LI. CBB at birth | c.70-2A>G, p.? | c.7277G>A, p.(Arg2426Gln) |
| 54 | 16 y | f | Germany (Caucasian) | no | LI | c.2140C>T, p.(Arg714*) | c.4514C>T, p.(Pro1505Leu) |
| 55 | 5 y | m | Germany (Caucasian) | no | CIE | c.4139A>G, p.(Asn1380Ser) | c.4468T>C, p.(Ser1490Pro) |
| 56 | 47 y | m | Germany (Caucasian) | no | LI | c.1221dup, p.(Ser408Ilefs*9) | c.3470C>T, p.(Ser1157Leu) |
| 57 | 30 y | m | Germany (Caucasian) | no | HI | c.2140C>T, p.(Arg714*) | c.2341T>A, p.(Cys781Ser) |
| 58 | 31 y | f | Germany (Caucasian) | no | Mild ichthyosis | c.4139A>G, p.(Asn1380Ser) | c.4540C>T, p.(Arg1514Cys) |
| 59 | 4 y | f | Germany (Caucasian) | no | CBB | c.5939+1G>A, p.? | c.7006T>G, p.(Cys2336Gly) |
| 60 | 22 y | m | Germany (Caucasian) | no | CIE, no CBB | c.4139A>G, p.(Asn1380Ser) |
c.6393G>T, p.(Pro2131=) splice site mutation |
| 61 | 3 y | m | Serbia/Hungary | no | Ichthyosis congenita gravis | c.179G>C, p.(Arg60Pro) | c.6356T>G, p.(Val2119Gly) |
| 62 | 45 y | f | Germany (Caucasian) | no | Mild CIE, without therapy lamellar desquamation, PPK | c.2833dup, p.(Arg945Lysfs*15) | c.4540C>T, p.(Arg1514Cys) |
| 63 | 1 y | f | Germany (Caucasian) | n/a | Severe CBB | c.3470C>T, p.(Ser1157Leu) | c.3470C>T, p.(Ser1157Leu) |
| 64 | 1 y | m | Syria (North African) | yes | HI | c.5046_5050del, p.(Lys1682Asnfs*13) | c.5046_5050del, p.(Lys1682Asnfs*13) |
In bold: novel mutations. CBB: collodion baby, PPK: palmoplanar keratosis, HI: harlequin ichthyosis, CIE: congenital ichthyosiform erythroderma, LI: lamellar ichthyosis, y: years.