ABCMdb

PMID: 18347285

Martin L, Maitre F, Bonicel P, Daudon P, Verny C, Bonneau D, Le Saux O, Chassaing N
Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE.
Arch Dermatol. 2008 Mar;144(3):301-6., [PubMed]

Sentences

No. Mutations Sentence Comment

51 ABCC6 p.Asp1238His Sequencing of ABCC6 coding regions revealed a single mutation, c.3712G→C (p.Asp1238His). Login to comment 53 ABCC6 p.Thr1130Met ABCC6 p.Asp1238His ABCC6 p.Asp1238His The daughter carried the variants p.Gln363_Arg373del/p.Asp1238His, and the son had the alleles p.Thr1130Met/p.Asp1238His. Login to comment 54 ABCC6 p.Thr1130Met Since the mother did not carry the p.Gln363_Arg373del and p.Thr1130Met mutations, these alleles were most likely paternally transmitted, indicating that she bore only 1 mutant allele. Login to comment 64 ABCC6 p.Arg166Cys However, the patient`ssisterhadtypicalPXEwithcompleteandsevereskin, eye, and vascular involvement, associated with 2 disease-causing variants (c.ABCC6del and c.496C→T [p.Arg166Cys]). Login to comment 74 ABCC6 p.His475Leu A single ABCC6 mutation was found (c.1424A→T, p.His475Leu) in this sporadic case. Login to comment 81 ABCC6 p.Glu1234Val He had a single ABCC6 mutation: c.3701A→T (p.Glu1234Val). Login to comment 89 ABCC6 p.Glu1400Lys ABCC6 mutation analysis showed a single c.4198C→A (p.Glu1400Lys) mutation. Login to comment