ABCC6 p.Gly1133Cys
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PMID: 18029147
[PubMed]
Drera B et al: "Compound heterozygosity for a novel and a recurrent ABCC6 gene mutation in an Italian family with Pseudoxanthoma elasticum."
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22
Sequencing analysis of proband`s genomic DNA, disclosed in exon 24 of ABCC6 gene the c.3397G>T transversion and the c.3421C>T transition, leading to p.G1133C missense and p.R1141X nonsense mutations, respectively (Fig. 2A).
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ABCC6 p.Gly1133Cys 18029147:22:151
status: NEW28 The specific amplification of both alleles, using a wild type and a mutated forward primer at nucleotide c.3397, and the sequence analysis of the PCR products showed that the p.G1133C substitution was in trans with the p.R1141X nonsense mutation (Fig. 2B).
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ABCC6 p.Gly1133Cys 18029147:28:177
status: NEW29 Furthermore, the p.G1133C missense mutation was not detected in 200 chromosomes from control Italian donors.
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ABCC6 p.Gly1133Cys 18029147:29:19
status: NEW31 Bioinformatic analysis of the p.G1133C functional effects by PolyPhen tool (available online at http://genetics.bwh.harvard.edu/ pph/) predicted that this mutation is damaging Letter to the Editor 253 Fig. 1 PXE patient family pedigree (A) and clinical findings in the proband (B).
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ABCC6 p.Gly1133Cys 18029147:31:32
status: NEW34 For all these reasons, the p.G1133C substitution is a novel disease causing mutation.
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ABCC6 p.Gly1133Cys 18029147:34:29
status: NEW46 In conclusion, we reported a new Italian PXE family showing intra-familiar variability in the onset and in the systems involvement, in which the disease was due to compound heterozygosity for the novel p.G1133C and the recurrent p.R1141X mutations.
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ABCC6 p.Gly1133Cys 18029147:46:204
status: NEW