Table 1.
Monogenic subtypes of neonatal diabetes mellitus
| Gene | Locus | Hereditary | Other clinical features |
|---|---|---|---|
| Abnormal pancreatic development | |||
| PLAGL1 | 6q24 | variable | TNDM±macroglossia±umbilical hernia |
| ZFP57 | 6p22.1 | OR | TNDM (multiple hypomethylation syndrome) ± macroglossia ± umbilical defects ± congenitalheart disease |
| PDX1 | 13q12.1 | OR | PNDM+pancreatic agenesis (steatorrhea) |
| PTF1A | 10p12.3 | OR | PNDM + pancreatic agenesis (steatorrhea) + cerebellar hypoplasia/aplasia + central respiratory dysfunction |
| HNF1B | 17cen-q21.3 | OD | TNDM + pancreatic hypoplasia and renal cysts |
| RFX6 | 6q22.1 | OR | PNDM + intestinal atresia+gallbladder agenesis |
| GATA6 | 18q11.1-q11.2 | OD | PNDM + congenital cardiac defects + biliary anomalies |
| GLIS3 | 9p24.3-p23 | OR | PNDM + congenital hypothyroidism + glaucoma + hepatic fibrosis + renal cysts |
| NEUROG3 | 10q21.3 | OR | PNDM + enteric anendocrinosis, malabsorptive diarrhea |
| NEUROD1 | 2q32 | OR | PNDM + cerebellar hypoplasia + visual impairment + deafness |
| PAX6 | 11p13 | OR | PNDM + microphthalmia + cerebral malformation |
| Abnormal Β-cell function | |||
| KCNJ11 | 11p15.1 | Spontaneous, OD | PNDM/TNDM ± DEND |
| ABCC8 | 11p15.1 | Spontaneous, OD,OR | TNDM/PNDM ± DEND |
| INS | 11p15.1 | OR | Isolated PNDM or TNDM |
| GCK | 7p15-p13 | OR | Isolated PNDM |
| SLC2A2(GLUT2) | 3q26.1-q26.3 | OR | Fanconi-Bickel syndrome PNDM + hypergalactosemia, hepatic dysfunction |
| SLC19A2 | 1q23.3 | OR | Roger’s Syndrome PNDM ± Thiamine-responsive megaloblastic anemia, sensorineural deafness |
| Β-cell destruction | |||
| INS | 11p15.1 | Spontaneous, OD | Isolated PNDM |
| EIF2AK3 | 2p12 | OR | Wolcott–Rallison syndrome PNDM + skeletal dysplasia + recurrent hepatic dysfunction |
| IER3IP1 | 18q12 | OR | PNDM + microcephaly + lissencephaly + epileptic encephalopathy |
| FOX3P | Xp11.23-p13.3 | X-related, OR | IPEX syndrome (autoimmune enteropathy, eczema, autoimmune hypothyroidism, increased IgE) |
| WFS1 | 4p16.1 | OR | PNDM + optic atrophy + diabetes insipidus + deafness |
*TNDM: temporary neonatal diabetes mellitus ** PNDM: permanent neonatal diabetes mellitus.