ABCC8 p.Arg841*
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[hide] Case report: pathological features of aberrant pan... Ann Clin Lab Sci. 2008 Autumn;38(4):386-9. 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., [PMID:18988933]
Abstract [show]
We describe a patient with congenital hyperinsulinism with previously unreported pathological findings including normal to decreased number of insulin-positive cells with very few enlarged nuclei, aberrant distribution of glucagon-positive cells, and a non-insulin producing adenomatous focus of unusual morphology. 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. This case suggests that abnormal function of ABCC8 may result in aberrant pancreatic development.
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2 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.
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ABCC8 p.Arg841* 18988933:2:151
status: NEW54 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).
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ABCC8 p.Arg841* 18988933:54:235
status: NEW57 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]).
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ABCC8 p.Arg841* 18988933:57:244
status: NEW64 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.
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ABCC8 p.Arg841* 18988933:64:65
status: NEW52 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).
X
ABCC8 p.Arg841* 18988933:52:233
status: NEW55 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]).
X
ABCC8 p.Arg841* 18988933:55:244
status: NEW62 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.
X
ABCC8 p.Arg841* 18988933:62:65
status: NEW