Table 1.
Summary of genetic mutations associated with maturity‐onset diabetes of the young
| Subtype | Gene | Location | Etiology | Features |
|---|---|---|---|---|
| MODY 1(82) | HNF4α | 20q13.12 | Insulin secretion defect | Progressive hyperglycemia |
| MODY 2(75) | Glucokinase | 7p13 | Glucose sensing and insulin secretion defect | Early onset; mild hyperglycemia, minor microvascular disease |
| MODY 3(83) | HNF1α | 12q24.31 | Insulin secretion defect | Progressive hyperglycemia, sensitive to SU |
| MODY 4(84) | PDX1/IPF1 | 13q12.2 | Insulin secretion defect | Early onset |
| MODY 5(85) | HNF1β | 17q12 | Insulin secretion defect | Variable age at onset, range infancy to adult; progressive hyperglycemia, renal cysts; renal failure, require insulin treatment |
| MODY 6(86) | NeuroD1 | 2q31.3 | Insulin secretion defect | Early onset |
| MODY 7(87) | KLF11 | 2p25.1 | Insulin secretion defect | Very rare |
| MODY 8(88) | CEL | 9q34.13 | β‐cell defect | Endocrine and exocrine pancreatic insufficiency |
| MODY 9(89) | PAX4 | 7q32.1 | Little data | Very rare |
| MODY 10(90) | INS | 11p15.5 | Insulin secretion defect | Diagnosed in patients aged in their 20s to 30s. Can cause neonatal diabetes, antibody negative type 1 diabetes, and MODY |
| MODY 11(91) | BLK | 8p23.1 | Defect in insulin synthesis and secretion | Onset often before age 25 years; some patients require insulin for treatment |
| MODY 12(92) | ABCC8 | 11p15.1 | Little data | Frequent cause of neonatal diabetes, but can rarely cause MODY |
| MODY 13(93) | KCNJ11 | 11p15.1 | Insulin secretion defect | Sulfonylurea therapy effective |
| MODY 14(94) | APPL1 | 3p14.3 | Defect in insulin signaling pathway | With elevated FBG and HbA1C and onset between 30s and 50s |
This table was adapted from Anik et al.80 ABCC8, adenosine triphosphate‐binding cassette, subfamily C (CFTR/MRP), member 8; APPL1, the adaptor protein, phosphotyrosine interaction, PH domain, and leucine zipper containing 1; ATP, adenosine triphosphate; BLK, B‐lymphocyte kinase; CEL, carboxyl ester lipase; GCK, glucokinase; HNF4A, hepatocyte nuclear factor 4α; INS, insulin; IPF1, insulin promoter factor 1; KCNJ11, potassium channel, inwardly rectifying subfamily J, member 11; KLF11, Kruppel‐like factor 11; MODY, maturity‐onset diabetes of the young; NEUROD1, neurogenic differentiation 1; OAD, oral antidiabetic agents; PAX4, paired‐box‐containing gene 4; PDX1, pancreatic and duodenal homeobox 1; PNDM, permanent neonatal diabetes.