ABCMdb

PMID: 18988933

Brunetti-Pierri N, Olutoye OO, Heptulla R, Tatevian N
Case report: pathological features of aberrant pancreatic development in congenital hyperinsulinism due to ABCC8 mutations.
Ann Clin Lab Sci. 2008 Autumn;38(4):386-9., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCC8 p.Asp1471Asn ABCC8 p.Arg841* Molecular analysis showed that the patient was a compound heterozygote for two mutations of the ABCC8 gene: a previously unreported nonsense mutation (R841X) and a missense mutation (D1471N) that has been previously described. Login to comment 52 ABCC8 p.Asp1471Asn ABCC8 p.Asp1471Asn ABCC8 p.Arg841* Complete sequence information was obtained for all 38 amplicons and revealed a C>T change at nucleotide position 2521 leading to a premature stop codon at position 841 Annals of Clinical & Laboratory Science, vol. 38, no. 4, 2008 (R841X) and a G>A change at nucleotide position 4411 resulting in the substitution of aspartate with asparagine at codon 1471 (D1471N). Login to comment 54 ABCC8 p.Asp1471Asn ABCC8 p.Asp1471Asn ABCC8 p.Arg841* Complete sequence information was obtained for all 38 amplicons and revealed a C>T change at nucleotide position 2521 leading to a premature stop codon at position 841 Annals of Clinical & Laboratory Science, vol. 38, no. 4, 2008388 (R841X) and a G>A change at nucleotide position 4411 resulting in the substitution of aspartate with asparagine at codon 1471 (D1471N). Login to comment 55 ABCC8 p.Asp1471Asn ABCC8 p.Arg841* Discussion In our patient, molecular analysis of the ABCC8 gene confirmed the clinical and pathological diagnosis of the diffuse form of congenital hyperinsulinism and revealed the presence of two distinct mutations: a novel nonsense mutation (R841X) and a missense mutation (D1471N) that was previously reported by Sharma et al [6]). Login to comment 57 ABCC8 p.Asp1471Asn ABCC8 p.Arg841* Discussion In our patient, molecular analysis of the ABCC8 gene confirmed the clinical and pathological diagnosis of the diffuse form of congenital hyperinsulinism and revealed the presence of two distinct mutations: a novel nonsense mutation (R841X) and a missense mutation (D1471N) that was previously reported by Sharma et al [6]). Login to comment 62 ABCC8 p.Arg841* This finding suggests that severe mutations, such as perhaps the R841X, are potentially associated with severedysregulationofinsulinproduction,resulting in the clinical phenotype by affecting a small fraction of b2;-cells. Login to comment 64 ABCC8 p.Arg841* This finding suggests that severe mutations, such as perhaps the R841X, are potentially associated with severedysregulationofinsulinproduction,resulting in the clinical phenotype by affecting a small fraction of β-cells. Login to comment