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 Phenotype	Treatment
Gonsorcikova, 2011 [13]	V84I	19 yo m, mild fasting hyperglycemia diagnosed at the age of 12, other family members with the same mutation presented GDM, IFG, IGT	n.r.
Bowman, 2012 [14]	R1380H/N, G214R/V222M, N1245D/N, V1523L/N, Q485R/N, E100K/N	19 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, R826W	17 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 T2D	SU or no treatment
Ovsyannikova, 2016 [12]	Ala1457Thr	28 yo m, hyperglycemia without ketosis, DR and microalbuminuria at diagnosis, mother with the same mutation presented adult onset diabetes	Gliclazide MR plus dapagliflozin
Johnson, 2018 [15]	Ala1390Val	27 yo m, asymptomatic hyperglycemia history of transient NHH, other family members with the same mutation presented adult onset diabetes	Insulin plus gliclazide
Shima, 2018 [18]	V607M/N	Transient neonatal diabetes at birth, other family members with the same mutation presented T2D and T1bD	No treatment
Dallali, 2019 [16]	c.2376delC, c.4606G > A	32 yo m polyuria and polydipsia, 10 yo m fortuitous diagnosis	Insulin, OHA
Koufakis, 2019; Present article	p.Arg1353His	17 yo m, hyperglycemia without ketosis, no complications at diagnosis, mother with GDM	Insulin 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.