ABCMdb

PMID: 16902423

Thomas AC, Cullup T, Norgett EE, Hill T, Barton S, Dale BA, Sprecher E, Sheridan E, Taylor AE, Wilroy RS, DeLozier C, Burrows N, Goodyear H, Fleckman P, Stephens KG, Mehta L, Watson RM, Graham R, Wolf R, Slavotinek A, Martin M, Bourn D, Mein CA, O'Toole EA, Kelsell DP
ABCA12 is the major harlequin ichthyosis gene.
J Invest Dermatol. 2006 Nov;126(11):2408-13. Epub 2006 Aug 10., [PubMed]

Sentences

No. Mutations Sentence Comment

37 ABCA12 p.Gly1179Arg Although the vast majority of HI-associated ABCA12 mutations identified to date (this study) (Akiyama et al., 2005; Kelsell et al., 2005) (Figure 2) would result in a truncated protein, patient 95 was found to contain a homozygous missense substitution (G1179R) in the first transmembrane domain of ABCA12. Login to comment 41 ABCA12 p.Gly1179Arg (b) Denaturing high-performance liquid chromatography traces of exon 24 showing patient 95 (homozygous G1179R), the mother of patient 95 (heterozygous), and a wild-type control. Login to comment 44 ABCA12 p.Gly1179Arg G1179R was not detected by denaturing high-performance liquid chromatography mutation screening in one hundred unrelated controls of mixed ethnicity. Login to comment 75 ABCA12 p.Gly1179Arg W199* and Q228* Q354* Y377* R714* R1297* G1179R W1294* Q2161* R1881* W1744* R2203* D2363N Del 28-53 Del 23 Del T Del 8 Del G Del A Del CG Del C Ins T ABCA12 Exon 6 8 9 10 16 17 23 24 27 28 33 34 37 42 44 47 49 53 Figure 2. Login to comment 86 ABCA12 p.Gly1179Arg In this study, we have identified another missense substitution (G1179R) in exon 24 (homozygous in patient 95) that would substitute a glycine (uncharged polar residue) for an arginine (positively charged residue) in the first transmembrane domain of the protein. Login to comment 123 ABCA12 p.Gly1179Arg The primers used for denaturing high-performance liquid chromatography analysis of G1179R in exon 24 are forward primer (50 -CGGACTACAGCTTCTCGGTTA-30 ) and reverse primer (50 -AAT TTCCCACTCTGCCATTC-30 ) to amplify a product of 205 bp. Login to comment 132 ABCA12 p.Gly1179Arg Denaturing high-performance liquid chromatography (Transgenomic WAVE system, France) was used to assess whether the exon 24 sequence variant G1179R found in patient 95 was likely to be a mutation or a polymorphism. Login to comment 133 ABCA12 p.Gly1179Arg The 205 bp fragment of exon 24 was analyzed in 100 control individuals plus patient and maternal samples, which are homozygous and heterozygous for G1179R, respectively. Login to comment