ABCMdb

PMID: 23674961

Mizutani Y, Nakayama T, Asai S, Shimada H, Yuzawa M
ABCC6 Mutation in Patients with Angioid Streaks.
Int J Biomed Sci. 2006 Feb;2(1):7-12., [PubMed]

Sentences

No. Mutations Sentence Comment

8 ABCC6 p.Arg1268Gln The base substitution of G3803A was identified in exon 27, with a change in the amino acid from CGG to CAG (R1268Q). Login to comment 11 ABCC6 p.Arg1268Gln Highly significant differences were observed in both genotype and allele frequencies of R1268Q between patients with AS and control subjects (p<0.001, p<0.002; chi-square test). Login to comment 12 ABCC6 p.Arg1268Gln In conclusion, the missense mutation R1268Q in the ABCC6 gene is not a specific marker of PXE, but is associated with the disease state of AS. Login to comment 72 ABCC6 p.Arg1268Gln This substitution yields an amino acid change from CGG (Arg) to CAG (Gln) (R1268Q) (Fig. 2). Login to comment 73 ABCC6 p.Arg1268Gln We investigated the frequencies of the G3803A (R1268Q) genotypes by the RFLP method (Fig. 3). Login to comment 77 ABCC6 p.Arg1268Gln Arrow indicates the nucleotide constitution with a change in the amino acid (R1268Q). Login to comment 101 ABCC6 p.Arg1141* However, some previous studies reported that R1141X mutation in exon 24 was the most frequent mutation in PXE (20, 21). Login to comment 104 ABCC6 p.Arg1268Gln This nucleotide substitution results in a substitution of the amino acid arginine (CGG) to glutamine (CAG) (R1268Q). Login to comment 105 ABCC6 p.Arg1268Gln The association of R1268Q with PXE has been reported, but opinions regarding this relationship remain controversial. Login to comment 106 ABCC6 p.Arg1268Gln Ringpfeil et al (10) reported that R1268Q was not found in control subjects, and concluded that it represented a mutation and not a polymorphism in patients with PXE. Login to comment 108 ABCC6 p.Arg1268Gln On the other hand, other studies have reported that R1268Q was a polymorphism, and not a mutation (20, 21). Login to comment 110 ABCC6 p.Arg1268Gln Germain et al (22) determined the frequency of R1268Q in 62 healthy Caucasian volunteers, and reported the genotype frequencies in their control subjects as G/G 66%, G/A 29% and A/A 5%. Login to comment 111 ABCC6 p.Arg1268Gln They detected no differences in genotype frequency between the control subjects and patients with PXE, and concluded that R1268Q was a harmless polymorphism. Login to comment 112 ABCC6 p.Arg1268Gln The genotype frequency of R1268Q in Caucasians is very similar to that in healthy Japanese in the present study (Table 2). Login to comment 113 ABCC6 p.Arg1268Gln There was no significant difference in genotype frequency between our Japanese controls and the reported Caucasian volunteers (p=0.50), suggesting that there is no racial difference in the frequency of R1268Q. Login to comment 121 ABCC6 p.Arg1268Gln In the present study, we found significant differences both in genotype frequency and allele frequency of R1268Q between patients with AS and the controls. Login to comment 123 ABCC6 p.Arg1268Gln These results suggest that R1268Q may represent a genetic marker for AS rather than PXE. Login to comment 124 ABCC6 p.Arg1268Gln Germain et al (22) described R1268Q as a nonfunctional substitution in case control studies of patients with PXE. Login to comment 125 ABCC6 p.Arg1268Gln However, R1268Q seems to have etiological significance in patients with AS in the present study. Login to comment 126 ABCC6 p.Arg1268Gln Therefore, detection of R1268Q warrants not only examination for the skin disease PXE, but also investigations of other systemic symptoms including AS and cardiovascular system involvement. Login to comment 137 ABCC6 p.Arg1268Gln A single nucleotide substitution was found in exon 27, which resulted in the substitution of an amino acid (R1268Q). Login to comment 138 ABCC6 p.Arg1268Gln Significant differences in genotype and allele frequencies of R1268Q were observed between patients with AS and control subjects. Login to comment 139 ABCC6 p.Arg1268Gln However, no significant difference in allele frequency of R1268Q was found between patients with AS with and without PXE. Login to comment 140 ABCC6 p.Arg1268Gln These findings indicate that R1268Q is not a specific marker of PXE, but is a missense mutation associated with the disease state of AS. Login to comment