Editorial
Copyright ©The Author(s) 2024.
World J Diabetes. Jun 15, 2024; 15(6): 1051-1059
Published online Jun 15, 2024. doi: 10.4239/wjd.v15.i6.1051
Table 1 Types of monogenic diabetes and the affected genes
MODY
NDM
Mitochon-drial DM
Autoimmune monogenic DM
Insulin resistance syndromes
Lipodystrophy
MODY1 -HNF4AAbnormal pancreatic developmentMELASIPEXType A insulin resistance syndromeCongenital generalized lipodystrophy
PLAGL1DMDFFOXP3Donohue and Rabson-Mendenhall syndromes – INSR
HYMAIMIDD
ZFP57Leigh syndrome SNHL
PDX1MM - m.3243A>G
PTF1A
PTF1A
enhancer
HNF1B
RFX6
GATA6
GLIS3
NEUROG3
NEUROD1
PAX6
MODY2 -GCKMNX1CGL1 - AGPAT2
MODY3 - HNF1ANKX2-2MELAS; possible atherosclerosis risk - m.3256C>TCGL2 – BSCL2
MODY4 -PDX1CNOT1MMC/MELAS - m.3260A>GCGL3 – CAV1
MODY5 - HNF1BONECUT1MELAS/DM - m.3271T>CAutoimmune polyglandular syndrome type 1 -AIRESHORT syndrome - PIK3R1CGL4 - PTRF
MODY6 - NEUROD1Abnormal beta-cell functionMERRF - m.8344A>GIPEX-like” phenotype CTLA4Other genetic abnormalitiesFamilial partial lipodystrophy
KCNJ11IL2RAAKT2 TBC1D4
ABCC8ITCHPRKCE
INSCLRBA
MODY7 -KLF11GCKOther autoimmune diabetesFPLD2 - LMNA
MODY8 -CELSCLC2A2 (GLUT2)MIDD, renal insufficiency - m.9155A>GSTAT1FPLD3 - PPARG
MODY9 -PAX4SLC19A2STAT3FPLD4 – PLN1
MODY10 -INSKCNMA1STAT5BFPLD5 - CIDEC
MODY11 -BLKDestruction of beta-cellsDMDF/RP + SNHL - m.12258C>AFPLD6 - LIPE
INS
IER3IP1
EIF2B1
YIPF5
MODY12 -ABCC8Wolcott-Rallison syndrome -EIF2AK3MM + DMDF/Encephalomyopathy/Dementia + diabetes + ophthalmoplegia - m.14709T>CFPLD7 – CAV1
MODY13 -KCNJ11Wolfram syndrome - WFS1
MODY14 -APPL1
Table 2 Clinical conditions suggestive of neonatal diabetes mellitus and for ordering genetic analysis
Rank
Clinical or laboratory context
1Infant before 6 months of age with plasma glucoses persistently > 250 mg/dL (13.9 mmol/L) without an alternative etiology
2Hyperglycemia persisting after seven to ten days of birth
3Infants with extreme hyperglycemia i.e., plasma glucose > 1000 mg/dL (55.6 mmol/L)
4Infants with diabetes diagnosed between 6 and 12 months, especially in those without islet autoantibodies or who have other features suggestive of a monogenic cause
5Infants with transient diabetes mellitus1