ABCMdb

ABCC8 p.Gln54*

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Publications

PMID: 17942822 [PubMed] Hussain K et al: "An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism."

No. Sentence Comment

5 RESULTS-A mosaic ABCC8 nonsense mutation (Q54X) was identified in the proband. Login to comment
26 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 Pedigree showing the inheritance of the novel Q54X ABCC8 mutation. Login to comment
45 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 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 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 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
145 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
41 Pedigree showing the inheritance of the novel Q54X ABCC8 mutation. Login to comment
46 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
70 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
99 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
146 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

PMID: 25201519 [PubMed] Arya VB et al: "Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations."

No. Sentence Comment

63 Extracellular M1V S12X Q54X E128K R74W M429X H627fs D855E R934X K890fs E995X *A1185V D1194V *L1431F R1437Q *D1472N A1493T *A1508P *E1507K *R54H R136fs Kir6.2 SUR1 CL3 linker Walker A p.? Login to comment
74 Patient ID GA (weeks), birth weight (g) Gender Age at presentation (weeks) Blood glucose (mmol/l) Serum insulin (mU/l) Mutation protein description (DNA description) LOH Dzx Resp PET CT/PVS Outcome ABCC8 1 40, 3150 Male 52 2.4 4.3 L1431F/N (c.4291COT/N) Yes - On Dzx at 6.4 years 2 40, 4000 Male 2 2.4 1.9 p.?/N (c.2697C4AOT/N) Yes - Off Dzx at 2 years 3 40, 5010 Female !1 2.6 8.6 E1507K/N (c.4519GOA/N) Yes - On Dzx at 2.3 years 4 40, 5600 Male !1 2.0 7.5 A1508P/N (c.4522GOC/N) Yes - On Dzx at 12 years 5 37, 4820 Male !1 2.0 9.0 A1153T/N (c.3457GOA/N) Yes - On Dzx at 4 years 6 38, 3630 Female 72 3.1 !2 A1153T/N (c.3457GOA/N) Yes - On Dzx at 2 years 8 35, 2820 Male !1 1.2 12.9 A1185V/N (c.3554COT/N) Yes - Off Dzx at 8 months 9 36, 4450 Male !1 2 28.5 p.?/N (c.3992-9GOA/N) Yes - Off Dzx after 4.5 months 10 41, 2780 Female !1 1 9.3 D1472N/N (c.4414GOA/N) Yes - Off Dzx after 10 months 11 38, 3750 Male !1 2.6 5.90 V601I/N (c.1801GOA/N) Yes - Off Dzx after 14 months 13 40, 4160 Female !1 2.4 14.8 V185fs/N (c.554delT/N) No Diffuse Off octreotide at 5 years 14 37, 3090 Male !1 0.6 12.4 p.?/N (c.3992-9GOA/N) No Focal On octreotide at 9.5 years 15 40, 3600 Male !1 2.7 6.7 H627fs/N (c.1879delC/N) No Diffuse Off octreotide at 18 months 16 40, 4700 Female !1 2.0 !2 E1507K/N (c.4519GOA/N) NA - No treatment required 17 40, 4200 Male !1 1.0 !2 D1031N/N (c.3091GOA/N) NA - No treatment required 18 41, 4850 Male !1 1.2 10.1 M1V/N (c.1AOG/N) No Diffuse (PVS) Near-total pancreatectomy (95%) 19 38, 2400 Male !1 2.1 16.3 D1194V; R1437Q/N (c.3581AOT; c.4310GOA/N) Yes No Focal Hypoglycaemia resolved after removal of focal lesion 20 40, 4580 Female !1 1.1 103 A1493T/N (c.4477GOA/N) Yes a No Diffuse Near-total pancreatectomy (95%) 21 40, 4600 Male !1 1.2 22.5 K890fs/N (c.2669_2675del/N) Yes No Focal Hypoglycaemia resolved after removal of focal lesion 22 40, 4335 Male !1 2.6 3.4 p.?/N (c.3992-9GOA/N) Yes No Focal Partial pancreatectomy 23 40, 3030 Male !1 1.8 15.6 p.?/N (c.3992-9GOA/N) Yes No Focal Partial pancreatectomy 24 40, 2770 Male !1 2.2 3.4 p.?/N (c.580-1GOC/N) No Indeterminate (PVS) Partial pancreatectomy - focal lesion on histology 25 41, 4290 Male 2 2.3 4.32 E128K/N (c.382GOA/N) No Focal Hypoglycaemia resolved after removal of focal lesion 27 40, 5095 Male !1 2.0 10.5 L1171X/N (c.3512delT/N) Yes No Focal Hypoglycaemia resolved after removal of focal lesion 29 37, 3560 Male !1 1.6 21.8 p.?/N (c.1629-2AOC/N) No Focal Hypoglycaemia resolved after removal of focal lesion 30 40, 2750 Male !1 1.5 16.4 G111R/N (c.331GOA/N) Yes No Focal Hypoglycaemia resolved after removal of focal lesion 31 37, 3340 Male !1 2.1 15 H627fs/N (c.1879delC/N) Yes No Focal Hypoglycaemia resolved after removal of focal lesion 32 41, 4950 Male !1 1.2 11.95 R934X/N (c.2800COT/N) No Focal Hypoglycaemia resolved after removal of focal lesion 33 40, 3080 Female 12 1.5 4.6 S12X/N (c.35COA/N) Yes No Focal Hypoglycaemia resolved after removal of focal lesion 34 39, 3600 Male !1 2.5 8 R1494W/N (c.4480COT/N) No Diffuse (PVS) Near-total pancreatectomy (95%) 37 36, 3410 Male !1 0.9 17.42 R1494W/N (c.4480COT/N) No Focal Partial pancreatectomy Table 1 Continued Patient ID GA (weeks), birth weight (g) Gender Age at presentation (weeks) Blood glucose (mmol/l) Serum insulin (mU/l) Mutation protein description (DNA description) LOH Dzx Resp PET CT/PVS Outcome 38 39, 4900 Female !1 1.4 23.61 A113V/N (c.338COT/N) No Diffuse (PVS) Near-total pancreatectomy (95%) 39 36, 3210 Male !1 0.6 114 Mosaic Q54X (c.160COT) No Diffuse Near-total pancreatectomy (95%) 40 41, 4300 Female !1 2.1 17 Q954X/N (c.2860COT/N) No Diffuse Near-total pancreatectomy (95%) 41 36, 2730 Male !1 ? Login to comment

PMID: 25733449 [PubMed] Rahman SA et al: "Molecular mechanisms of congenital hyperinsulinism."

No. Sentence Comment

239 However, to date only one patient has been described with a ABCC8 nonsense mutation (Q54X) causing this histological form of CHI (Hussain et al. 2008). Login to comment