ABCMdb

PMID: 16086762

Meyer S, Zanardo L, Kaminski WE, Horn P, Schmitz G, Hohenleutner U, Herrmann WA, Landthaler M, Vogt T
Elastosis perforans serpiginosa-like pseudoxanthoma elasticum in a child with severe Moya Moya disease.
Br J Dermatol. 2005 Aug;153(2):431-4., [PubMed]

Sentences

No. Mutations Sentence Comment

7 ABCC6 p.Glu1293Lys ABCC6 p.Arg1273Lys However, two novel allelic amino acid substitutions (Arg1273Lys and Glu1293Lys; exon 27) were found in the girl and her father, localized in close proximity to the region that codes for the functionally critical second nucleotide-binding fold of ABCC6. Login to comment 51 ABCC6 p.Arg1268Gln ABCC6 p.Glu1293Lys ABCC6 p.Arg1273Lys ABCC6 p.Arg1418Gln These comprise three adjacent amino acid substitutions in exon 27 (Arg1268Gln, Arg1273Lys and Glu1293Lys) and a single Arg1418Gln exchange in exon 30 (Fig. Login to comment 53 ABCC6 p.Arg1268Gln ABCC6 p.Glu1293Lys ABCC6 p.Arg1273Lys The Arg1268Gln substitution, which results from a G fi A nucleotide exchange in position 3803, was found in both the index patient and her healthy father. This substitution has previously been suggested to be causatively linked to PXE,9 but was later recognized as a common polymorphism with significant allelic frequency.10 In contrast, the Arg1273Lys and Glu1293Lys substitutions in exon 27 are new and have not previously been reported. Login to comment 54 ABCC6 p.Glu1293Lys Of particular interest is the Glu1293Lys substitution, which was detected in both the proposita and her father. This substitution not only replaces a negatively charged amino acid with a positively charged one, but is also localized immediately upstream of the functionally critical 'Walker A` motif.11 The fact that the 33-year-old father did not show signs of either PXE or vascular failure (mean age at onset of PXE is approximately 13 years12,13 ) does not necessarily contradict a causative role of the aforementioned substitutions, because PXE is nearly always autosomal recessive. Login to comment 72 ABCC6 p.Glu1293Lys ABCC6 p.Arg1273Lys Novel amino acid substitutions of the ABCC6 gene (Arg1273Lys and Glu1293Lys) in exon 27 were found in the proposita and her father. Login to comment