Table 2.
Clinical profile and gene analysis of NDM.
| Subtype | Number | Gender | Term or preterm | HbA1c at diagnosis (%) | Age at last visit (yr) | HbA1c (%) at last visit | Height (cm) (percentile) | Weight (kg) (percentile) | Mutant gene | Inherited from | De novo mutation | Specific clinical features | Mutation | Zygosity | Insulin/glyburide therapy (age at transfer) | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Father | Mother | |||||||||||||||
| P | 1 | M | Term | 13.7 | 4.1 | 6.1% | 107.0 (P75) |
17.0 (P50) |
KCNJ11 | p.R201H | Congenital cataract | c.602G>A; p.R201H | HET | Insulin/interruption because of side effects (1 yr) | ||
| P | 2 | F | Term | 4.0 | 2.0 | 6.0% | 88.0 (P50–75) |
12.5 (P50–75) |
KCNJ11 | p.R201H | c.602G>A; p.R201H | HET | Glyburide response (0.7 mg/kg/d) (3 months) |
|||
| P | 3 | M | Term | 9.6 | 1.5 | 6.5% | 81.0 (P25) |
11.0 (P10–P25) |
KCNJ11 | p.G53S | c.157C>T; p.G53S | HET | Glyburide response (0.4 mg/kg/d) (7 months) |
|||
| P | 4 | M | Term | 8.1 | 2.5 | 7.5% | 85.0 (P3) |
11.0 (P3) |
KCNJ11 | p.V59M | iDEND | c.175G>A; p.V59M | HET | Glyburide response (4 months) |
||
| P | 5 | M | Term | KCNJ11 | p.E229K | c.685G>A; p.E229K | HET | Insulin/no transition because of lost to follow-up |
||||||||
| P | 6 | F | Term | 9.6 | 5.1 | 8.0% | 105.0 (P10) |
15.0 (P3–10) |
ABCC8 | p.R825W | c.2473C>T; p.R825W | HET | Insulin/no response (4 months) |
|||
| P | 7 | F | Term | 9.8 | 1.5 | 7.0% | 83.0 (P50–75) |
11.5 (P25–50) |
INS | c.293C>A; p.S98I | HET | Insulin | ||||
| P | 8 | F | Term | 14.2 | 1.5 | GLIS3 | No sample | No sample | Died of liver and kidney failure at 1.5 years of age | c.2570T>A; p.F857Y | HET | Insulin | ||||
| P | 9 | M | Term | 10.4 | 5.0 | 7.9% | 110.0 (P25–P50) |
17.5 (P10–P25) |
SLC19A2 | No sample | No sample | Moderate normocytic anemia | c.1213A>G; p.T405A | HET | Insulin | |
| P | 10 | M | Term | 9.5 | 13.9 | 7.0% | 140.0 (<P3) |
30.0 (<P3) |
EIF2AK3 | p.C532STOP | WRS | c.1798A>T; p.C532STOP | HET | Insulin | ||
| P | 11 | F | Term | 11.2 | 1.5 | 7.5% | 74.3 (<P3) |
8.0 (<P3) |
EIF2AK3 | p.leu182leufsX19 | p.Arg588Ter | WRS | c.1762C>T, p.Arg588Ter; c.544delC, p.leu182leufsX19 |
HET | Insulin | |
| P | 12 | F | Term | 9.8 | 4.5 | 7.5% | 106.0 (P50) |
15.0 (P10) |
Insulin (0.8 IU/kg/d) | |||||||
| P | 13 | M | Term | 15.8 | 2.0 | 7.9% | 89.5 (P50–P75) |
13.0 (P50) |
Insulin (based on glucose, injection once every other day) | |||||||
| P | 14 | M | Term | 4.38 | 0.6 | 62.0 (<P3) |
4.0 (<P3) |
Died of DKA at 7 months of age Intellectual and physical retardation |
Insulin | |||||||
| P | 15 | M | Term | 5.2 | 6.0 | 8.2% | 115.0 (P25) |
18.5 (P10–P25) |
Insulin | |||||||
| P | 16 | M | Term | 5.0 | 7.4% | 113.0 (P75) |
20 (P50–75) |
Insulin | ||||||||
| P | 17 | M | Term | 5.9 | 3.0 | 7.3% | 98.0 (P50–75) |
17.0 (P90) |
Insulin | |||||||
| P | 18 | F | Term | 4.0 | 7.6% | 105.0 (P75) |
16.0 (P50) |
Insulin | ||||||||
| T | 19 | F | Term | 7.1 | 1.8 | ABCC8 | p.G296R | c.886G>A; p.G296R | HET | |||||||
| T | 20 | M | Term | 10.2 | 1.8 | 5.6% | 83.6 (P25–50) |
11.2 (P25–50) |
ABCC8 | p.D212E | c.636G>T; p.D212E | HET | ||||
| T | 21 | F | Term | 9.6 | 5.8 | 5.7% | 110.5 (P25–50) |
20.0 (P50) |
UPD6 | |||||||
| T | 22 | F | Term | 7.4 | 4.8 | 5.6% | 110.0 (P50) |
19.0 (P75) |
||||||||
| T | 23 | M | Term | 5.5 | 5.6% | 112.5 (P25–50) |
18.0 (P10–25) |
|||||||||
| T | 24 | M | Term | 9.9 | 3.7 | 5.2% | 102.3 (P75) |
16.5 (P50–75) |
||||||||
| T | 25 | F | Term | 4.0 | ||||||||||||