Table 3

Clinical profile and beta-cell function in patients with P/LP variants of monogenic diabetes genes

CaseMonogenic diabetes genesAffected family membersAge category (years)Category of age of diagnosis (years)Fasting CP (nmol/L)HOMA2-IRHOMA2-%BHbA1c (%)BMI (kg/m2)Treatment at randomization
1DCAF17Father40–5018–300.230.632.96.924.0Metformin, DPP-4i, thiazolidinedione, SGLT2i, insulin
2INSNone30–4030–400.841.9109.85.932.1Metformin
3WFS1None30–4030–401.574.0105.17.721.8Metformin
4ZBTB20Father
Mother
30–4030–400.872.727.610.322.4Not on oral glucose-lowering drugs, GLP-1 RA or insulin
5WFS1Father20–3018–300.360.931.26.622.1Not on oral glucose-lowering drugs, GLP-1 RA or insulin
6*HNF1AMother40–5030–400.591.31057.827.7Sulfonylurea, metformin, DPP-4i, thiazolidinedione, SGLT2i
7*,†HNF1BFather
Mother
30–40<18<0.1NANA6.718.6Insulin
8*mt3243Mother30–4030–400.130.330.66.419.5Metformin, DPP-4i, thiazolidinedione, insulin
9NEUROD1None30–4030–400.541.283.46.826.6Metformin
10*GCKFather30–4030–400.270.639.86.523.5Sulfonylurea
11*HNF1AFather20–30<18<0.1NANA7.819.7Metformin, DPP-4i, insulin
12*GCKNone40–5030–400.190.5256.722.9Not on oral glucose-lowering drugs, GLP-1 RA or insulin
13WFS1Mother40–5030–400.541.623.38.528.5Sulfonylurea, metformin, DPP-4i
14*HNF1ANone40–5018–30<0.1NANA8.022.8Metformin, DPP-4i, insulin
15*PPARGNone40–5030–400.772.230.511.131.2Sulfonylurea, DPP-4i, thiazolidinedione, SGLT2i
16WFS1None40–5030–400.922.381.17.228.5Not on oral glucose-lowering drugs, GLP-1 RA or insulin
17*HNF1ANone30–4018–300.290.672.26.618.0Metformin
18WFS1Mother
Sibling
40–50<180.521.716.911.227.5Metformin, thiazolidinedione
19*HNF1BFather30–4018–300.431.054.86.433.1Metformin, thiazolidinedione, SGLT2i, GLP-1 RA, insulin
20*GCKMother40–5030–401.323.2111.37.032.5Metformin
  • *Patients considered to have monogenic diabetes as defined by heterozygous or homozygous carriers of P/LP variants in autosomal dominant inheritance, or, homozygous or compound heterozygous carriers of P/LP variants in autosomal recessive inheritance.

  • †GADA positive.

  • .BMI, body mass index; CP, C-peptide; DPP-4i, dipeptidyl peptidase-4 inhibitor; GADA, glutamic acid decarboxylase antibodies; GLP-1 RA, glucagon-like peptide-1 receptor agonist; HbA1c, glycated hemoglobin; HOMA2-%B, Homeostasis Model Assessment of beta-cell function (%); HOMA2-IR, Homeostasis Model Assessment of insulin resistance; NA, not available; P/LP, pathogenic/likely pathogenic; SGLT2i, sodium-glucose cotransporter 2 inhibitor.