Table 1.
Gene mutations in transient neonatal diabetes mellitus.
| Mechanism of β-Cell Dysfunction | Gene Mutation | Chromosome Locus | Inheritance | Additional Features | Therapy |
|---|---|---|---|---|---|
| Reduced β-cell development | ZAC (IPLAG1)/ HYMA1 | 6q24 | imprinting; AD | macroglossia; umbilical hernia | insulin |
| ZEP57 | 6p22.1 | AR | insulin | ||
| HNF1B | 17q21.3 | AD | pancreatic cysts hypoplasia; renal | ||
| Failure membrane to depolarize | KCNJ11a (Kir6.2) | 11p15.1 | AD; de novo | low developmental birth weight; delay; DEND | sulfonylurea |
| Failure channel to close KATP | ABCC8a (SUR1) | 11p15.1 | AD; AR; de novo | low birth weight | sulfonylurea |
| Abnormal β-cell function | INSa (proinsulin) | 11p15.5 | AR | low birth weight | insulin |
AD: autosomal dominant; AR: autosomal recessive; DEND: developmental delay, epilepsy, DM; KATP: ATP-dependent potassium channel.
a These mutations can also be found in permanent neonatal diabetes mellitus.