The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY)

Table 2 MODY genes, chromosomal loci, and types of causative mutations

Gene	Chromosomal locus	Types of mutations	References
HNF4A	20q13.12	Missense, frameshift, splice site, nonsense, indel, deletion, insertion	[47, 49, 50]
HNF1A	12q24.31	Missense, frameshift, splice site, nonsense, indel, deletion, insertion	[47, 49, 51]
PDX1/IPF1	13q12.2	Missense, nonsense, deletion, insertion	[47, 49, 52]
HNF1B	17q12	Missense, frameshift, splice site, nonsense, indel, deletion, insertion	[47, 49, 53]
NEUROD1	2q32	Missense, frameshift, nonsense, indel, deletion, insertion	[47, 49, 54]
KLF11	2p25	Missense	[47, 49, 55]
PAX4	7q32	Missense, splice site, deletion	[47, 49, 56]
BLK	8p23	Missense	[47, 49, 57]
GCK	7p13	Missense, frameshift, splice site, nonsense, indel, deletion, insertion	[47, 49, 58]
CEL	9q34	Missense, frameshift, indel, deletion, insertion	[47, 49, 59]
INS	11p15.5	Missense, splice site, nonsense, indel, insertion	[47, 49, 60]
ABCC8	11p15	Missense	[47, 61, 62]
KCNJ11	11p15	Missense	[47, 63, 64]
APPL1	3p14.3	Missense, nonsense	[49, 65, 66]