ABCMdb

PMID: 17942822

Hussain K, Flanagan SE, Smith VV, Ashworth M, Day M, Pierro A, Ellard S
An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism.
Diabetes. 2008 Jan;57(1):259-63. Epub 2007 Oct 17., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCC8 p.Gln54* RESULTS-A mosaic ABCC8 nonsense mutation (Q54X) was identified in the proband. Login to comment 26 ABCC8 p.Gln54* The Q54X mutation was heterozygous in unaffected sections of the pancreas but present at between 64 and 74% in diseased tissue. Login to comment 40 ABCC8 p.Gln54* Pedigree showing the inheritance of the novel Q54X ABCC8 mutation. Login to comment 41 ABCC8 p.Gln54* Pedigree showing the inheritance of the novel Q54X ABCC8 mutation. Login to comment 45 ABCC8 p.Gln54* A heterozygous c.160C>T mutation (arrow) resulting in the substitution of glutamine (CAG) by a premature termination codon (TAG) at residue 54 (Q54X) of the ABCC8 gene is shown for the father. Login to comment 46 ABCC8 p.Gln54* A heterozygous c.160C>T mutation (arrow) resulting in the substitution of glutamine (CAG) by a premature termination codon (TAG) at residue 54 (Q54X) of the ABCC8 gene is shown for the father. Login to comment 68 ABCC8 p.Gln54* MOLECULAR GENETIC ANALYSIS Sequencing analysis identified a novel nonsense mutation, Q54X (c.160CϾT; p.Gln54X) in exon 2 of the ABCC8 gene. Login to comment 69 ABCC8 p.Gln54* ABCC8 p.Gln54* This Q54X mutation results in a premature termination codon that is predicted to result in nonsense-mediated decay of the mutant mRNA and/or production of a truncated protein lacking 1,528 of the 1,581 amino acid residues. Login to comment 70 ABCC8 p.Gln54* This Q54X mutation results in a premature termination codon that is predicted to result in nonsense-mediated decay of the mutant mRNA and/or production of a truncated protein lacking 1,528 of the 1,581 amino acid residues. Login to comment 98 ABCC8 p.Gln54* Paternal UPD was present in lymphocytes and affected parts of the pancreas. We found no evidence for maternal UPD (Q54X mutation load Ͻ50%) in any tissues sampled. Login to comment 99 ABCC8 p.Gln54* Paternal UPD was present in lymphocytes and affected parts of the pancreas. We found no evidence for maternal UPD (Q54X mutation load b0d;50%) in any tissues sampled. Login to comment 145 ABCC8 p.Gln54* Genomic DNA from the father who is heterozygous for the Q54X mutation was used in serial dilution to produce standard curves to determine linear range and accuracy of quantitation (primer and probe sequences available upon request from the authors). Login to comment 146 ABCC8 p.Gln54* Genomic DNA from the father who is heterozygous for the Q54X mutation was used in serial dilution to produce standard curves to determine linear range and accuracy of quantitation (primer and probe sequences available upon request from the authors). Login to comment