Division of Endocrinology & Metabolism, Department of Medicine, Cheil General Hospital & Women's Healthcare Center, Dankook University College of Medicine, Seoul, Korea.
Copyright © 2015 Korean Diabetes Association
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CONFLICTS OF INTEREST: No potential conflict of interest relevant to this article was reported.
MODY, maturity-onset diabetes of the young; HNF4A, hepatocyte nuclear factor 4 α; GCK, glucokinase; PDX1, pancreatic and duodenal homeobox 1; IPF1, insulin promoter factor 1; OAD, oral antidiabetic agents; NEUROD1, neurogenic differentiation 1; KLF11, Kruppel-like factor 11; CEL, carboxyl ester lipase; PAX4, paired-box-containing gene 4; INS, insulin; PNDM, permanent neonatal diabetes; BLK, B-lymphocyte kinase; ABCC8, ATP-binding cassette, subfamily C (CFTR/MRP), member 8; ATP, adenosine triphosphate; KCNJ11, potassium channel, inwardly rectifying subfamily J, member 11.
Gene | Subjects | Finding | Reference |
---|---|---|---|
HNF1A | 69 early onset T2DM | One silent mutation | [58] |
HNF1A | 16 early onset T2DM | One missense (R236L) mutation | [20] |
HNF1A | 22 early onset T2DM | One mutation (promoter) | [59] |
HNF4A, GCK, HNF1A | 23 MODY and 17 early onset T2DM | One HNF1A (P393fsdelC, promoter) | [5] |
One GCK (R191W) | |||
One HNF4A (T130I polymorphism) | |||
HNF1A | 25 early-onset T2DM | Four promoter polymorphism | [60] |
HNF1A | 96 GDM | Five mutations ( 2 promoter, Arg278Gln, Pro300pro, IVS5 + 106A>G) | [62] |
HNF1B | 1 MODY | One missense (P159L) mutation | [38] |
PTPRD, SYT9, WFS1 | 6 MODY | Thr207Ile in PTPRD, Gln187Glu in SYT9, Val509Gly in WFS1 by whole-exome sequencing | [57] |