ABCMdb

ABCC6 p.Gly1042Ser

Predicted by SNAP2:	A: D (75%), C: D (80%), D: D (95%), E: D (95%), F: D (91%), H: D (91%), I: D (91%), K: D (95%), L: D (91%), M: D (91%), N: D (85%), P: D (91%), Q: D (85%), R: D (95%), S: D (85%), T: D (85%), V: D (91%), W: D (95%), Y: D (91%),
Predicted by PROVEAN:	A: D, C: D, D: D, E: D, F: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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Publications
[hide] Early and severe amyloidosis in a patient with con... Br J Dermatol. 2006 Jun;154(6):1190-3. 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., [PMID:16704654]

Abstract [show]
A young woman patient had early and extensive familial Mediterranean fever (FMF)-related amyloidosis and pseudoxanthoma elasticum (PXE). 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. Both mutations were homozygous, in agreement with consanguinity in the parents. ABCC6 deficiency may have increased the severity of amyloidosis by increasing the deposition in target tissues of heparan sulphate, which colocalizes spatially and temporally with amyloid proteins, and/or by decreasing the therapeutic activity of colchicine.

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No. Sentence Comment
3 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 The strategy for ABCC6 mutation analysis was as previously described.17 Sequencing of ABCC6 exon 23 showed the G1042S variation. Login to comment
58 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 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

[hide] ABCC6 is unlikely to be a modifier gene for famili... J Genet. 2007 Dec;86(3):293-5. Chassaing N, Touitou I, Cattan D, Calvas P
ABCC6 is unlikely to be a modifier gene for familial Mediterranean fever severity.
J Genet. 2007 Dec;86(3):293-5., [PMID:18305351]

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No. Sentence Comment
13 This patient, born of a healthy consanguineous parents, was a homozygote carrier of both p.Met694Ile mutation in MEFV, and p.Gly1042Ser in ABCC6. Login to comment