ABCMdb

PMID: 18253096

Plomp AS, Florijn RJ, Ten Brink J, Castle B, Kingston H, Martin-Santiago A, Gorgels TG, de Jong PT, Bergen AA
ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.
Mol Vis. 2008 Jan 24;14:118-24., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCC6 p.Met562Thr ABCC6 p.Arg964Pro ABCC6 p.Ala1291Thr ABCC6 p.Leu826Pro Results: Eight novel ABCC6 mutations (c.1685T>C, p.Met562Thr; c.2477T>C, p.Leu826Pro; c.2891G>C, p.Arg964Pro; c.3207C>A, p.Tyr1069X; c.3364delT, p.Ser1122fs; c.3717T>G, p.Tyr1293X; c.3871G>A, p.Ala1291Thr; c. 4306_4312del, p.Thr1436fs) were found in seven unrelated patients. Login to comment 65 ABCC6 p.Arg1221His ABCC6 p.Met562Thr In case 1, analysis of ABCC6 revealed two mutations, the earlier reported c.3662G>A (p.Arg1221His) [24] and the novel mutation c.1685T>C (Met562Thr). Login to comment 67 ABCC6 p.Leu826Pro In case 2, we found the previously reported pathogenic sequence change, c.2787+1G>T, in intron 21 of ABCC6 [25, 26] and the novel mutation, c.2477T>C (p.Leu826Pro), in exon 19. Login to comment 69 ABCC6 p.Arg964Pro In case 3, one missense mutation was found in ABCC6, the novel mutation c.2891G>C (p.Arg964Pro), which leads to the change of a well conserved amino acid between NBF1 and NBF2. Login to comment 71 ABCC6 p.Ala1291Thr In case 4, we found a c.3207 C>A (p.Tyr1069X) nonsense mutation as well as a c.3871G>A (p.Ala1291Thr) missense mutation in ABCC6. Login to comment 92 ABCC6 p.Arg1339Cys Mutational analysis of ABCC6 in case 7 revealed the earlier reported mutation, c.4015C>T (p.Arg1339Cys) [25], and the novel mutation, c.4306_4312del. Login to comment 115 ABCC6 p.Met562Thr ABCC6 p.Arg964Pro ABCC6 p.Leu826Pro DISCUSSION In this study, eight novel mutations were found, which we consider to be implicated in PXE: c.1685T>C (p.Met562Thr), c.2477T>C (p.Leu826Pro), c.2891G>C (p.Arg964Pro), c. Login to comment 117 ABCC6 p.Ala1291Thr 3717T>G (p.Tyr1293X), c.3871G>A (p.Ala1291Thr), and c. 4306_4312del (p.Thr1436fs). Login to comment 218 ABCC6 p.Gln378* A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum. J Mol Med 2001; 79:536-46. Login to comment 265 ABCC6 p.Arg1141* Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum. Login to comment