ABCMdb

PMID: 12915478

Lefevre C, Audebert S, Jobard F, Bouadjar B, Lakhdar H, Boughdene-Stambouli O, Blanchet-Bardon C, Heilig R, Foglio M, Weissenbach J, Lathrop M, Prud'homme JF, Fischer J
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2.
Hum Mol Genet. 2003 Sep 15;12(18):2369-78. Epub 2003 Jul 15., [PubMed]

Sentences

No. Mutations Sentence Comment

64 ABCA12 p.Gly1381Glu ABCA12 p.Arg1514His ABCA12 p.Asn1380Ser ABCA12 p.Asn1380Ser ABCA12 p.Asn1380Ser ABCA12 p.Asn1380Ser ABCA12 p.Asn1380Ser ABCA12 p.Glu1539Lys ABCA12 p.Gly1651Ser ABCA12 p.Gly1651Ser Origin of families and mutations Family Number of patients Degree of consanguinity Origin Mutation Effect Exon number A 3 1st Morocco 4142G!A G1381E 28 C 1 1st Morocco 4139A!G N1380S 28 D 1 1st Morocco 4139A!G N1380S 28 E 1 1st Morocco 4139A!G N1380S 28 F 3 1st Algeria 4951G!A G1651S 32 G 3 No Algeria 4139A!G N1380S 28 4851G!A G1651S 32 H 1 1st Mali 4541G!A R1514H 30 I 1 1st Algeria 4139A!G N1380S 28 J 1 1st Algeria 4615G!A E1539K 31 neonate mouse skin (AK028781, AK029031). Login to comment 75 ABCA12 p.Gly1381Glu ABCA12 p.Arg1514His ABCA12 p.Asn1380Ser ABCA12 p.Glu1539Lys ABCA12 p.Gly1651Ser All of the mutations were missense mutations and were found in the region of the protein encoded by exons 28-32: 4139A!G (N1380S) and 4142G!A (G1381E) in exon 28, 4541G!A (R1514H) in exon 30, 4615G!A (E1539K) in exon 31 and 4951G!A (G1651S) in exon 32. Login to comment 78 ABCA12 p.Gly1651Ser Two other families from Algeria presented the G1651S mutation (including the family G of the compound heterozygote) and a common haplotype (Fig. 2). Login to comment 88 ABCA12 p.Gly1381Glu ABCA12 p.Arg1514His ABCA12 p.Asn1380Ser ABCA12 p.Glu1539Lys Four of the mutations (N1380S, G1381E, R1514H, E1539K) were situated in the first highly conserved ATP binding domain of the protein (Fig. 4). Login to comment