Research Article
Genetic Analysis and Follow-Up of 25 Neonatal Diabetes Mellitus Patients in China
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 |
| | 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) | | 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) | | 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) | | 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) | | 5 | M | Term | | | | | | KCNJ11 | | p.E229K | | | c.685G>A; p.E229K | HET | Insulin/no transition
because of lost to follow-up | | 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) | | 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 | | 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 | | 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 | | 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 | | 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 | | 12 | F | Term | 9.8 | 4.5 | 7.5% | 106.0
(P50) | 15.0
(P10) | | | | | | | | Insulin (0.8 IU/kg/d) | | 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) | | 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 | | 15 | M | Term | 5.2 | 6.0 | 8.2% | 115.0
(P25) | 18.5
(P10–P25) | | | | | | | | Insulin | | 16 | M | Term | | 5.0 | 7.4% | 113.0
(P75) | 20
(P50–75) | | | | | | | | Insulin | | 17 | M | Term | 5.9 | 3.0 | 7.3% | 98.0
(P50–75) | 17.0
(P90) | | | | | | | | Insulin | | 18 | F | Term | | 4.0 | 7.6% | 105.0
(P75) | 16.0
(P50) | | | | | | | | Insulin | | 19 | F | Term | 7.1 | 1.8 | | | | ABCC8 | | p.G296R | | | c.886G>A; p.G296R | HET | | | 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 | | | 21 | F | Term | 9.6 | 5.8 | 5.7% | 110.5
(P25–50) | 20.0
(P50) | UPD6 | | | | | | | | | 22 | F | Term | 7.4 | 4.8 | 5.6% | 110.0
(P50) | 19.0
(P75) | | | | | | | | | | 23 | M | Term | | 5.5 | 5.6% | 112.5
(P25–50) | 18.0
(P10–25) | | | | | | | | | | 24 | M | Term | 9.9 | 3.7 | 5.2% | 102.3
(P75) | 16.5
(P50–75) | | | | | | | | | | 25 | F | Term | | 4.0 | | | | | | | | | | | |
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