ABCMdb

PMID: 19823106

Finger RP, Charbel Issa P, Ladewig M, Gotting C, Holz FG, Scholl HP
Fundus autofluorescence in Pseudoxanthoma elasticum.
Retina. 2009 Nov-Dec;29(10):1496-505., [PubMed]

Sentences

No. Mutations Sentence Comment

31 ABCC6 p.Arg1141* The analysis of genetic variations in the ABCC6 gene was performed as described elsewhere.18 Briefly, genomic DNA was extracted from ethylenediaminetetraacetic acid (EDTA)-whole blood, and the presence of the frequent ABCC6 gene mutation c.3421CϾT (p.R1141X) and the deletion Ex23-29del were analyzed by real-time polymerase chain reaction assay19 and a polymerase chain reaction method according to Hu et al.20 The exons 1 to 31 of the ABCC6 gene were polymerase chain reactions amplified with ABCC6-specific primers, excluding the amplification of the two ABCC6-pseudogenes ␺1 and ␺2, and analyzed by denaturating high-performance liquid chromatography and direct sequencing as described previously.18 Skin biopsies were taken from areas of visible skin lesions using a punch under local anesthesia. Login to comment 47 ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Arg1138Gln ABCC6 p.Arg1138Trp ABCC6 p.Arg1138Trp ABCC6 p.Arg1314Trp ABCC6 p.Arg765Gln ABCC6 p.Phe952Cys ABCC6 p.Tyr1239His ABCC6 p.Trp38Ser ABCC6 p.Leu1063Arg ABCC6 p.Leu252Phe of Mutations 1 46 F Positive CA c.3421CϾT (p.R1141X) c.3412CϾT (p.R1138W) 2 2 44 F Positive PA 0 3 39 M NA CA c.3421CϾT (p.R1141X) c.3421CϾT (p.R1141X) 2 4 47 F Positive CA c.3421CϾT (p.R1141X) Ex23-29del 2 5 49 F Positive PA c.3421CϾT (p.R1141X) 1 6 39 M Positive NA 7 57 F NA PA c.3421CϾT (p.R1141X) 1 8 56 F Positive NA 9 51 F Positive PA 0 10 47 M Positive NA 11 39 F NA PA 0 12 58 M NA CA c.3421CϾT (p.R1141X) c.3715TϾC (p.Y1239H) 2 13 24 M Positive CA c.3421CϾT (p.R1141X) Deletion of unknown size 2 14 59 M Positive PA c.3421CϾT (p.R1141X) 1 15 47 F Positive PA c.3421CϾT (p.R1141X) 1 16 41 M Positive CA c.3421CϾT (p.R1141X) IVS27-6 GϾA 2 17 35 F Positive PA 0 18 74 M NA CA c.3421CϾT (p.R1141X) c.3421CϾT (p.R1141X) 2 19 67 F Positive CA c.4182delG Ex23-29del 2 20 70 M Positive CA c.3421CϾT (p.R1141X) c.3188TϾG (p.L1063R) 2 21 46 M Positive CA c.3421CϾT (p.R1141X) c.3421CϾT (p.R1141X) 2 22 61 M Positive NA 23 61 F NA CA c.754CϾT (p.L252F) c.2294GϾA (p.R765Q) 2 24 58 F NA PA 0 25 54 F NA CA c.3421CϾT (p.R1141X) 1 26 50 M Positive NA 27 38 F Positive CA c.113GϾC (p.W38S) 1 28 54 M Positive PA 0 29 52 F Positive NA 30 45 F Positive PA 0 31 45 F NA CA c.3421CϾT (p.R1141X) c.3940CϾT (p.R1314W) 2 32 27 M NA PA c.3421CϾT (p.R1141X) 1 33 59 F Positive NA 34 65 F Positive NA 35 50 M Positive CA c.3421CϾT (p.R1141X) c.2835_2850del16, c.2855TϾG (p.F952C) 3 36 62 F Positive NA 37 48 M Positive NA 38 20 F Positive PA c.3421CϾT (p.R1141X) 1 39 65 F Positive PA c.3421CϾT (p.R1141X) 1 40 13 F Positive CA c.3421CϾT (p.R1141X) c.3421CϾT (p.R1141X) 2 41 65 F Positive PA c.3412CϾT (p.R1138W) 1 42 72 M NA CA c.3421CϾT (p.R1141X) c.1574_1575insG 2 43 39 F NA PA 0 44 67 F NA CA c.3413GϾA (p.R1138Q) 1 45 43 F Positive NA 46 66 F Positive NA *GenBank accession no. Login to comment 50 ABCC6 p.Arg1141* CA, complete analysis of the coding regions of all exons and adjacent intron sequences, including analysis of the most frequent ABCC6 gene deletion Ex23-29del; PA, partial ABCC6 gene analysis with at least detection of the frequent mutation c.3421CϾT (p.R1141X) and the deletion Ex23-29del, plus potential DHPLC analysis and direct sequencing of selected exons; NA, not available. Login to comment