Case Reports in Genetics / 2019 / Article / Tab 1

Case Report

First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism

Table 1

Main findings of key studies that reported the presence of mutations in the ABCC8 gene in people with diabetes. Remarkable heterogeneity in terms of both clinical presentation and treatment is evident.

First author, year [Ref]Mutation (as reported in the study)Diabetes PhenotypeTreatment

Gonsorcikova, 2011 [13]V84I19 yo m, mild fasting hyperglycemia diagnosed at the age of 12, other family members with the same mutation presented GDM, IFG, IGTn.r.

Bowman, 2012 [14]R1380H/N, G214R/V222M, N1245D/N, V1523L/N, Q485R/N, E100K/N19 yo m, 11 yo f, 15 yo f, 14 yo m, 36 yo m, 13 yo f, 42 yo m (phenotype not specified)Insulin, SU, metformin or a combination of the above

Riveline, 2012 [17]R1380H, C435R, L582V, Y356C, P201S, C418R, R620C, R826W17 yo f diabetes with polyuria, 15 yo m diabetes with polyuria, 36 yo m diabetes, 32 yo m diabetes with obesity, 39 yo m diabetes, 35 yo f IGT, 53 yo f T2D, 53 yo m T2D, 46 yo m T2D, 49 yo f T2DSU or no treatment

Ovsyannikova, 2016 [12]Ala1457Thr28 yo m, hyperglycemia without ketosis, DR and microalbuminuria at diagnosis, mother with the same mutation presented adult onset diabetesGliclazide MR plus dapagliflozin

Johnson, 2018 [15]Ala1390Val27 yo m, asymptomatic hyperglycemia history of transient NHH, other family members with the same mutation presented adult onset diabetesInsulin plus gliclazide

Shima, 2018 [18]V607M/NTransient neonatal diabetes at birth, other family members with the same mutation presented T2D and T1bDNo treatment

Dallali, 2019 [16]c.2376delC, c.4606G > A32 yo m polyuria and polydipsia, 10 yo m fortuitous diagnosisInsulin, OHA

Koufakis, 2019 
Present article
p.Arg1353His17 yo m, hyperglycemia without ketosis, no complications at diagnosis, mother with GDMInsulin plus glibenclamide

Ref: reference; ABCC8: ATP-binding cassette transporter subfamily C member 8; yo: year-old; m: male; f: female; DR: diabetic retinopathy; MR: modified release; n.r.: not reported; GDM: gestational diabetes mellitus, IFG: impaired fasting glucose; IGT: impaired glucose tolerance; NHH: neonatal hyperinsulinemic hypoglycemia; SU: sulfonylurea; OHA: oral hypoglycemic agents; T2D: type 2 diabetes; T1bD: type 1b diabetes.

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