Table 1 Different types of monogenic diabetes and the genes implicated [52]
From: Challenges in diagnosis and management of diabetes in the young
Historical name | Gene | Locus | Clinical features |
|---|---|---|---|
MODY 1 | HNF4A | 20q12–q13.1 | Mild-severe fasting and postprandial plasma glucose (PG) Respond well to sulphonylurea agents |
MODY 2 | GCK | 7p15–p13 | Mild fasting hyperglycemia. Less than 50 % of carriers have overt diabetes, and microvascular complications of diabetes are rare. Treatment not needed except in pregnancy (see below) |
MODY 3 | HNF1A | 12q24.2 | Same as MODY 1 |
MODY 4 | IPF1/ PDX1 | 13q12.1 | Pancreatic agenesis. |
MODY 5 | HNF1B | 17cen–q21.3 | Overt diabetes in association with renal and genito-urinary abnormalities. |
MODY 6 | NEUROD1 | 2q32 | Rare, with phenotype characterized by obesity and insulin resistance. |
MODY 7 | KLF11 | 2p25 | Very rare; phenotype ranges from impaired glucose tolerance or impaired fasting glucose to overt diabetes. |
MODY 8 | CEL | 9q34.3 | Very rare; associated with both exocrine and endocrine pancreatic deficiency and with demyelinating peripheral neuropathy. |
MODY 9 | PAX4 | 7q32 | Very rare. Crucial transcription factor for beta cells development |
MODY 10 | INS | 11p15.5 | Very rare. Usually associated with neonatal diabetes. < 1 % cases. |
MODY 11 | BLK | 8p23–p22 | These adapter proteins’ nucleate formation contributes to the qualitative and quantitative control of beta cell signaling. |
MODY 12 | ABCC8 | 11p15.1 | Very rare. Usually associated with neonatal diabetes.  < 1 % cases. |
MODY 13 | KCNJ11 | 11p15.1 | Very rare. Usually associated with neonatal diabetes.  < 1 % cases. |
MODY 14 | WFS | 4p16.1 | Rare. Usually associated with DIDMOAD syndrome. Also, seen with early onset diabetes.< 1 % cases. |