The Main Genetic Causes
Reviewed by CDE Mehandi Sharma · Updated
There are many known causes of neonatal diabetes, but a few account for most cases. Knowing which group your baby falls into tells you a great deal.
| Cause | Share | What it usually means |
|---|---|---|
| KCNJ11 or ABCC8 | About 38% | Permanent, but usually treatable with a tablet instead of insulin |
| 6q24 abnormality | About 20% | Transient — settles in infancy, often returns around puberty |
| INS (the insulin gene) | About 11% | Permanent; insulin remains the treatment |
| EIF2AK3 | About 7% | Permanent, part of a wider syndrome affecting bones and liver |
The first two rows carry most of the practical news. A potassium channel result is the one that most often changes treatment. A 6q24 result predicts that the diabetes will settle in infancy — while also predicting that it is likely to come back later.
The Indian picture has its own pattern. Where parents are related by blood, which is common in parts of India, recessive causes such as EIF2AK3 appear more often than they do elsewhere. In one South Indian centre, 75% of the families had a consanguineous marriage, and no potassium channel cases were found at all — while other Indian series report potassium channel changes in around a third of cases.
That variation is precisely why the test is done on your baby rather than assumed from statistics.
Sources
- US National Library of Medicine — Early comprehensive genomic testing in neonatal diabetes (international cohort)
- US National Library of Medicine — Permanent neonatal diabetes: a single-centre study from South India
- US National Library of Medicine — Infantile onset diabetes mellitus in developing countries: India