ABCMdb

ABCA12 p.Gly1179Arg

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Publications

PMID: 21339420 [PubMed] Rajpopat S et al: "Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases."

No. Sentence Comment

177 In our series, 2 missense mutations were identified, namely V1089F in exon 23 combined with a splice site mutation in exon 33 in one patient, and G1179R (homozygous) in exon 24 of another patient. Login to comment
179 In our series, 2 missense mutations were identified, namely V1089F in exon 23 combined with a splice site mutation in exon 33 in one patient, and G1179R (homozygous) in exon 24 of another patient. Login to comment

PMID: 21168995 [PubMed] Umemoto H et al: "New insight into genotype/phenotype correlations in ABCA12 mutations in harlequin ichthyosis."

No. Sentence Comment

35 Patient 2 carried a maternal missense mutation p.Gly1179Arg on the other locus (Fig. 1h). Login to comment
36 To confirm the presence of the mutation p.Gly1179Arg in Patient 2, we performed restriction enzyme digestion analysis using BclI (NEW ENGLAND BioLabs). Login to comment
38 The 255-bp PCR products from wild type alleles were not digested by BclI, although the PCR products from the allele with the mutation p.Gly1179Arg were digested into 173- and 82-bp fragments. Login to comment
40 In contrast, the PCR product after BclI digestion from the mother of Patient 2 showed 255-, 173- and 82-bp bands, which indicated that she was heterozygous for the p.Gly1179Arg missense mutation (supplementary Fig. S1). Login to comment
53 Patient 2 harboured two ABCA12 mutations, p.Arg1515X and p.Gly1179Arg, and both her parents were heterozygous carriers of these defects. Login to comment
59 The mutation p.Gly1179Arg might result in major loss of ABCA12 function and/or structure, leading to the severe phenotype in Patient 2. Login to comment
63 The marked difference in the clinical severity of the two patients indicated that the p.Gly1179Arg has far bigger deleterious functional effects than c.3295-2A>G. Login to comment

PMID: 16902423 [PubMed] Thomas AC et al: "ABCA12 is the major harlequin ichthyosis gene."

No. Sentence Comment

37 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 (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 G1179R was not detected by denaturing high-performance liquid chromatography mutation screening in one hundred unrelated controls of mixed ethnicity. Login to comment
75 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 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 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 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 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