Table 2.
Genetic and clinical characteristics of all reported PDX1-MODY cases
| Nucleotide change (NM_000209.3) | Amino acid change (NP_000200.1) | Heterozygous variants | Homozygous variants | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Early-onset diabetes (onset ≤ 35 years) | Late-onset diabetes (onset > 35 years) | Obesity | No diabetes | Neonatal diabetes | ||||||||
| Number of patients | Mean age of diagnosis | Treatment | Number of patients | Mean age of diagnosis | Treatment | References | ||||||
| 1 | c.52T>C | p.C18R | 1 | 13.0 | Diet:1 | 1 | 65.0 | Ins:1 | · | · | – | 13 |
| 2 | c.54C>A | p.C18* | 1 | 8.0 | · | – | – | – | · | · | – | 14 |
| 3 | c.97C>A | p.P33T | 8 | 19.7 | Diet:2 Ins:2 | 1 | 46.0 | Ins:1 | + (3) | + (1) | – | 15, 16 |
| 4 | c.98dupC | p.A34Cfs*191 | 2 | 18.0 | – | – | – | – | · | · | + (1) | 14 |
| 5 | c.104G>A | p.C35Y | 1 | · | · | – | – | – | · | · | – | 17 |
| 6 | c.164G>A | p.G55D | 1 | 14.0 | Ins:1 | – | – | – | · | · | – | 18 |
| 7 | c.176A>T | p.Q59L | – | – | – | · | · | · | · | · | – | 19 |
| 8 | c188delC | p.P63Rfs*60 | 11 | 18.1 | Diet:3, Oral:4, Ins:5 | 6 | 45.7 | Diet:2, Oral:4 | + (6) | – | + (2) | 1, 2, 20–22 |
| 9 | c.218delT | p.L73Pfs*50 | 1 | 16.0 | Oral:1 | 1 | 56.0 | Diet:1 | + (1) | – | – | our case |
| 10 | c.226G>A | p.D76N | 6 | 24.2 | Diet:1, Oral:1 | 38 | 47.4 | Diet:2, Oral:4, Ins:4 | +(2) | + (4) | – | 13 |
| 11 | c.260C>T | p.P87L | – | – | – | – | – | – | · | · | + (1) | 14 |
| 12 | c.440G>A | p.K147R | 1 | · | · | – | – | – | · | · | – | 23 |
| 13 | c.455C>G | p.A152G | – | – | – | – | – | – | · | · | + (1) | 24 |
| 14 | c.463C>A | p.R155S | 1 | 14.0 | Oral:1 | 2 | 42.5 | Oral:2 | + (2) | – | – | 25 |
| 15 | c.488A>G | p.K163R | 1 | 18.0 | Ins:1 | – | – | – | · | · | + (1) | 26 |
| 16 | c.492G>T | p.E164D | – | – | – | – | – | – | · | · | + (1) | 27 |
| 17 | c.499T>G | p.F167V | – | – | – | – | – | – | – | – | + (1) | 28 |
| 18 | c.504C>G | p.N168K | 1 | · | · | – | – | – | · | · | – | 29 |
| 19 | c.508T>C | p.Y170H | – | – | – | – | – | – | · | · | + (1) | 30 |
| 20 | c.529G>A | p.V177M | 1 | 26.0 | Ins:1 | – | – | – | · | · | – | 31 |
| 21 | c.532G>A | p.E178K | – | – | – | – | – | – | · | · | + (1) | 27 |
| 22 | c.559G>A | p.E187K | 1 | · | · | – | – | – | · | · | – | 32 |
| 23 | c.571A>C | p.K191Q | 1 | · | · | – | – | – | · | · | – | 33 |
| 24 | c.590G>A | p.R197H | 1 | 35.0 | Oral:1 | 1 | 45.0 | Oral:1 | · | · | – | 13 |
| 25 | c.634G>A | p.G212R | 2 | 23.0 | · | 1 | 40.0 | · | + (1) | – | 23 | |
| 26 | c.651delT | p.G218Afs*12 | – | · | – | – | – | · | · | – | 34 | |
| 27 | c.670G>A | p.E224K | 9 | 24.8 | · | 1 | 40.0 | · | + (2) | · | – | 31, 36, 36 |
| 28 | c.694_697del GGCGinsAGCT | p.G232_E233del insSer* | 1 | 26.0 | Ins:1 | – | – | – | – | · | – | 37 |
| 29 | c.716C>A | p.P239Q | 4 | 20.5 | · | 6 | 56.7 | · | · | + (3) | – | 23 |
| 30 | c.726_728dup GCC | p.P244dup | 10 | 34.0 | · | 7 | 44.1 | · | +(8) | · | – | 19 |
| 31 | c.848G>A | p.R283Q | 1 | · | · | 1 | · | · | · | · | – | 38 |
diet: diet therapy; oral: oral antidiabetic agent; Ins: insulin therapy