Table 1.
Clinical characteristics of patients with a homozygous GCK mutation
| Mutation | Cases | BW (g) | Gestational age (weeks) | BW SDS | Age at diagnosis (days) | Glucose at diagnosis (mmol l−1) | C peptide (ng ml−1) | HbA1c (mmol mol−1 [%]) | Insulin dose (units kg−1 day−1) | Country |
|---|---|---|---|---|---|---|---|---|---|---|
| p.E40K (c.118G>A) | 1 | 1500 | 38 | −3.93 | 112 | 25 | <0.1 | 123 [13.4] | 1.3 | Pakistan |
| p.R43C (c.127C>T) | 1 | 2300 | 37 | −1.50 | 161 | 23.1 | N/A | 79 [9.4] | 1 | India |
| p.H50D (c.148C>G) | 2 | 1425 (1250–1600) | 39 (38–39) | −4.63 (−4.41–−4.85) | 16 (3–28) | 31 (23–39) | 0.5 (0.1–0.9) | 72 (54–89) [8.7 (7.1–10.3)] | 1.1a | Egypt |
| p.G72R (c.214G>A) | 1 | 2240 | 38 | −2.13 | 1 | 7.9 | 0.13 | N/A | 0.3 | Turkey |
| p.L146P (c.491T>C) | 1 | 1465 | 35 | −2.53 | 1 | 24 | 0.11 | 69 [8.5] | 0.8 | Qatar |
| p.S151T (c.451T>A) | 1 | 1700 | 40 | −4.71 | 42 | N/A | N/A | 64 [8.0] | 1 | India |
| p.D160N (c.478G>A) | 1 | 3285 | N/Ac | −0.16 | 3287 | 6.0 | N/A | 65 [8.1] | None | Canada |
| p.T168A (c.502A>G) | 2 | 1400a | 37a | −3.67a | 151 (56–245) | 17.3 (16.5–18.0) | N/A | 82 (63–100) [9.6 (7.9–11.3)] | 1 (0.8–1.1) | Turkey |
| p.K169R (c.506A>G) | 3 | 1750 (1600–1900) | 39 (38–40) | −3.82 (−3.67–−3.94) | 11 (1–28) | 39.8 (28.0–48.0) | 0.29 (0.08–0.5) | 63 (62–63) [7.9 (7.8–7.9)]a | 1.4 (1.3–1.5)a | Turkey |
| p.A208T (c.623C>T) | 2 | 1675 (1450–1900) | 38 (36–40) | −3.4 (−2.96–−3.85) | 18 (0–35) | 26.7 (13.8–39.6) | N/A | 72 (69–74) [8.7 (8.5–8.9)] | 1.2 (1.0–1.3) | Poland |
| p.V226M (c.676G>A) | 1 | 3500 | 40 | 0.203 | 5479 | N/A | N/A | N/A | None | Canada |
| p.E256fs (c.764_767dup) | 1 | 1600 | 38 | −3.75 | 21 | N/A | N/A | N/A | N/A | India |
| p.G261R (c.781G>A) | 1 | 2400 | 39 | −2.22 | 7 | 20 | N/A | 89 [10.3] | 1 | Saudi Arabia |
| p.S375fs (c.1121dup) | 1 | 1500 | 36 | −2.92 | 140 | 20 | <0.10 | 135 [14.5] | N/A | Pakistan |
| p.M393T (c.1178T>C) | 1 | 2350 | 38 | −1.87 | 21 | 22.5 | 0.38 | N/A | 1 | Turkey |
| p.R397L (c.1190G>T) | 5 | 1666 (1370–1820) | 37 (36–38) | −3.08 (−2.1–−3.51) | 24 (2–84) | 21 (11–33)a | N/A | 83 (64–100) [9.7 (8.0–11.3)]a | 1.1 (1.0–1.2)b | UK/Pakistan |
| p.F419fs (c.1256del) | 1 | 1400 | 36 | −3.17 | 14 | 18 | N/A | 89 [10.3] | 1.3 | Turkey |
| p.S441L (c.1322C>T) | 1 | 2500 | 38 | −1.53 | 84 | 17 | N/A | 83 [9.7] | 1.3 | Turkey |
| p.A449T (c.1345G>A) | 3 | 3233 (3000–3700) | 41 (40–42) | −1.17 (−1.92–0.32) | 98 (21–126) | 17.4 (13.8–22) | 0.30 (0.05–0.55)a | 59 (54–64) [7.6 (7.1–8.0)] | 0.9 (0.7–1.0) | Jordan |
Mutations are described according to Homo sapiens GCK reference sequence NM_000162.3. Where there is data for more than one patient per mutation, the mean and range are shown. The indicated range in BW SDS refers to the range of birth weight for that mutation. BW, birth weight; SDS, standard deviation score; N/A, data not available.
aData unavailable for one individual.
bData unavailable for two individuals.
cPresumed ‘at term’ for calculation of BW SDS.