Maturity-onset diabetes of the young
At a minimum, these SNPs are known to be related, and others may also be
Maturity-onset diabetes of the young (MODY) refers to hereditary forms of diabetes mellitus caused by mutations in any of several autosomal dominant genes disrupting insulin production. Typically occurring before 25 years of age, MODY is often referred to as 'monogenic diabetes' to distinguish it from the more common types of diabetes (especially type 1 and type 2), which involve more complex combinations of causes involving multiple genes and environmental factors. MODY1, -2 and -3 are the most common forms, accounting for ~60% of diagnoses.Wikipedia; [PMID 18971436
]
The MODY subtypes and the genes with associated mutations include:
| Subtype | Gene |
|---|---|
| MODY1 | HNF4A |
| MODY2 | GCK |
| MODY3 | HNF1A |
| MODY4 | PDX1 |
| MODY5 | TCF2 |
| MODY6 | NEUROD1 |
| MODY7 | KLF11 |
| MODY8 | CEL |
| MODY9 | PAX4 |
| MODY10 | INS |
| MODY11 | BLK |
| MODY13 | KCNJ11 |
| MODY14 | APPL1 |
A 2017 publication also identified dominantly inherited (rare) mutations in the RFX6 gene as leading to MODY, albeit with lower penetrance than MODY1 or MODY3.[PMID 29026101]
