ABCC8 p.Arg1393Leu
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PMID: 26180531
[PubMed]
Brady C et al: "A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels."
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Mutation analysis of ABCC8 showed three variants (R1215W - paternal, pathogenic; W739C - maternal, variant of unknown significance; R1393L - maternal, variant of unknown significance).
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ABCC8 p.Arg1393Leu 26180531:5:132
status: NEW59 The R1215W variant was found to be paternally-inherited while the W739C and R1393L variants were maternally inherited.
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ABCC8 p.Arg1393Leu 26180531:59:76
status: NEW62 In our patient, the significance of the maternal variants was unclear as they had not been previously described in Table 1 Fasting challenge results Test name (Normal range) Laboratory result IGFBP-1 (ng/mL) (5-9 years: 15-95; no reference range for patients <5 years) 61 Insulin (<2-13 bc;IU/mL fasting) 0.2 Glucose (>70 mg/dL/3.885 mmol/L) 32/1.776 C-peptide (0.8-3.5 ng/mL) 0.5 BOHB (0-3.0 mg/dL) 4.3 (0.41 mmol/L) Free Fatty Acids (0.5-0.9 mmol/L) 0.46 Growth Hormone (>7 ng/mL) 3 Table 2 Genetic results (ABCC8 Mutation) Mutation Inheritance Interpretation c. R1215W Paternal Pathogenic c. W739C Maternal VUS c. R1393L Maternal VUS VUS variant of unknown significance CHI cases.
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ABCC8 p.Arg1393Leu 26180531:62:620
status: NEW115 We suspect the R1393L variant is pathogenic and could act either recessively or dominantly.
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ABCC8 p.Arg1393Leu 26180531:115:15
status: NEW