ABCC6 p.Gly1042Ser
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PMID: 16704654
[PubMed]
Cattan D et al: "Early and severe amyloidosis in a patient with concurrent familial Mediterranean fever and pseudoxanthoma elasticum."
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.
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ABCC6 p.Gly1042Ser 16704654:3:18
status: NEW49 The strategy for ABCC6 mutation analysis was as previously described.17 Sequencing of ABCC6 exon 23 showed the G1042S variation.
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ABCC6 p.Gly1042Ser 16704654:49:111
status: NEW58 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.
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ABCC6 p.Gly1042Ser 16704654:58:324
status: NEW59 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.
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ABCC6 p.Gly1042Ser 16704654:59:141
status: NEW
PMID: 18305351
[PubMed]
Chassaing N et al: "ABCC6 is unlikely to be a modifier gene for familial Mediterranean fever severity."
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.
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ABCC6 p.Gly1042Ser 18305351:13:125
status: NEW