Table 2.
Characteristics of the 20 patients identified with monogenic diabetes
| Study ID | Gene | Mutation | Protein effect | Gender | Age at diagnosis (yrs) | Diabetes duration (yrs)* | Initial treatment | Current treatment | BMI centile | Affected parent | UCPCR nmol/mmol | GAD | IA-2 | Notes |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 211 | GCK | c.97_117dup | p.(Val33_Lys39dup) | M | 3 | 13 | Insulin | None | 99th | Mother | 3.57 | N/A | N/A | Known MODY |
| 537 | GCK | c.683C>T | p.(Thr228Met) | M | 11 | 2 | Diet | None | N/A | Mother | 1.94 | N/A | N/A | Known MODY Sibling of 538 |
| 538 | GCK | c.683C>T | p.(Thr228Met) | M | 9 | 1 | Diet | None | N/A | Mother | 1.73 | N/A | N/A | Known MODY Sibling of 537 |
| 543 | GCK | c.184G>A | p.(Val62Met) | M | 4 | 0.2 | Diet | None | N/A | Mother | N/A | N/A | N/A | Known MODY Sibling of 544 |
| 544 | GCK | c.184G>A | p.(Val62Met) | M | 3 | 2 | Diet | None | N/A | Mother | N/A | N/A | N/A | Known MODY Sibling of 543 |
| 1396 | GCK | c.1209del | p.(Ile404fs) | M | 14 | 0.3 | Diet | None | 71st | Mother | N/A | N/A | N/A | Known MODY |
| 8002095 | GCK | c.1019G>T | p.(Ser340Ile) | M | 9 | 5 | Diet | None | 88th | Father | 0.79 | Neg | N/A | Known MODY |
| 8002372 | GCK | c.1340G>A | p.(Arg447Gln) | M | 18 | 0.6 | Diet | None | 90th | Neither | Not tested | Neg | Not tested | Newly identified MODY |
| 599 | HNF1A | c.608G>A | p.(Arg203His) | F | 14 | 0.5 | OHA | OHA | 99th | Both parents | 3.08 | Neg | Neg | Known MODY |
| 1012 | HNF1A | c.872del | p.(Pro291fs) | F | 10 | 0.7 | Diet | Diet | 99th | Mother | 5.6 | Neg | Neg | Known MODY Sibling of 395 |
| 395 | HNF1A | c.872del | p.(Pro291fs) | F | 14 | 0.1 | OHA | OHA | 95th | Mother | 5.8 | Neg | Neg | Known MODY Sibling of 1012 |
| 455 | HNF1A | c.872dup | p.(Gly292fs) | F | 12 | 3 | OHA | OHA | 57th | Father | 0.86 | Neg | Neg | Known MODY |
| 567 | HNF1A | c.872dup | p.(Gly292fs) | M | 8 | 2 | Diet | OHA | 94th | Mother | 1.73 | Neg | Neg | Known MODY |
| 686 | HNF4A | c.749T>C | p.(Leu250Pro) | M | 16 | 0.7 | Diet | Diet | 99th | Father | 4.74 | N/A | N/A | Known MODY |
| 1348 | HNF4A | c.340C>T | p.(Arg114Trp) | F | 15 | 0.2 | Insulin | OHA | 86th | Father | 3.00 | Neg | Neg | Newly identified MODY |
| 1203 | HNF4A | c.340C>T | p.(Arg114Trp) | M | 7 | 2 | Insulin | Insulin | 39th | Neither | 0.21 | Neg▪ | Neg | Dual diagnosis: Newly identified HNF4A / known Type 1 |
| 377 | HNF4A | c.-12G>A | p.(?) | F | 11 | 2 | Insulin | Insulin | 99th | Mother | 0.28 | Neg | Neg | Newly identified MODY |
| 854 | HNF1B | c.1-?_*151+?del | p.(0?) (whole gene deletion) | M | 11 | 2 | Insulin | Insulin | 9th | Father | 0.71 | Neg | Neg | Newly identified MODY |
| 555 | ABCC8 | c.4139G>A | p.(Arg1380His) | F | 11 | 8 | OHA | OHA | 4th | Father | 3.00 | Neg | Neg | Known MODY |
| 758 | INSR | c.3706C>G | p.(Pro1236Ala) | F | 12 | 3 | OHA | Diet | 55th | Mother | 9.07 | N/A | N/A | Known MODY |
*
Diabetes duration at time of study
▪
GAD negative as defined in this study as <99th centile, but GAD 25.9 (97.5th centile)
N/A : Not applicable, genetic diagnosis made prior to study
Mutations described using the Human Genome Variation Society (HGVS) nomenclature guidelines according to the following reference sequences: GCK NM_000162.3; HNF1A NM_000545.6; HNF4A NM_175914.4; ABCC8 NM_001287174.1; INSR NM_000208.2