ABCMdb

PMID: 16704654

Cattan D, Bouali B, Chassaing N, Martinez F, Dupont JM, Dode C, Martin L
Early and severe amyloidosis in a patient with concurrent familial Mediterranean fever and pseudoxanthoma elasticum.
Br J Dermatol. 2006 Jun;154(6):1190-3., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCC6 p.Gly1042Ser She had the novel G1042S mutation in the ATP-binding cassette subfamily C member 6 (ABCC6) gene, responsible for PXE, and the mutation M694I in MEFV, the FMF gene. Login to comment 49 ABCC6 p.Gly1042Ser The strategy for ABCC6 mutation analysis was as previously described.17 Sequencing of ABCC6 exon 23 showed the G1042S variation. Login to comment 58 ABCC6 p.Gly1042Ser M694I seems to be specific to the Arab population.18 M694V homozygosity has repeatedly been shown to be associated with the development of amyloidosis and severe phenotype.19 M694I is much less frequent than M694V but has also been reported in association with renal amyloidosis.18 The patient was also homozygous for ABCC6 G1042S. Login to comment 59 ABCC6 p.Gly1042Ser This novel missense point mutation is disease-causing according to usual criteria.20 On the basis of alignment of the 12 human ABCC proteins G1042S alters a conserved amino acid within an intracellular domain (Fig. Login to comment 75 ABCC6 p.Arg1141* The fact that ABCC1 transports colchicine and decreases the activity of this drug could be one explanation for the poor efficacy of colchicine in preventing the extension of amyloidosis in our patient.26 A Dutch epidemiological study has demonstrated that R1141X, the most prevalent ABCC6 mutation in Europe, was not rare in the general population (0Æ8%).27 Accordingly, it can be speculated that ABCC6 Fig 4. Login to comment