Table 1.

List of documented genes enrolled for diagnosis in NDM children.

Genes	Type of mutation	Locus	OMIM	Inheritances	Phenotypes of diabetes	Features of NDM	Treatment
KCNJ11	Point mutation	11p15.1	600937	Dominant	PNDM/TNDM	DEND syndrome, development delay, low birth delay, seizures and other neurologic features	Insulin Sulfonylurea
ABCC8	Point mutation	11p15.1	600509	Dominant/Recessive	PNDM/TNDM	Low birth weight and DEND syndrome	Insulin Sulfonylurea
EIF2AK3	Point mutation	2p11.2	604032	Recessive	PNDM	Wolcott-Rallison syndrome	Insulin
SLC19A2	Missense & nonsense	1q23.3	603941	Recessive	PNDM/TNDM	Strokes, thiamine responsive megaloblastic anaemia syndrome and seizures	Insulin and thiamine
WFS1	Point mutation	4p16.1	222300	Recessive	PNDM	Wolfram syndrome	-
INS1	Missense mutation	11p15.5	176730	Dominant/Recessive	PNDM/TNDM	Low birth weight	Insulin
6q24 (PLAGL1 &HYMA1)	Over expression (Methylation)	6q24	601410 & 603044	Sporadic	TNDM	Low birth weight, umbilical hernia and IUGR	Insulin
GATA6	Point mutation	18q11.1-q11.2	601656	Dominant	PNDM	Cardiac malformation, Gut abnormalities and gall bladder agencies	Insulin
GCK	Point mutation	7p15-p13	138079	Recessive	PNDM	MODY = GCK	Insulin
FOXP3	Missense mutation	Xp11.23-p13.3	300292	X-linked	PNDM	IPEX syndrome	Insulin
GLIS3	Nonsense frameshift	9p24.3-p23	610192	Recessive	PNDM	Polycystic kidneys, Congenital hypothyroidism and congenital glaucoma	Insulin
IER3IP1	Missense mutation	18q21.2	609382	Recessive	PNDM	Epilepsy and microcephaly with simplified gyration	Insulin
MNXI	Missense mutation	7q36.3	142994	Recessive/Sporadic	PNDM	Short stature, neurogenic bladder and development delay	Insulin
NEURODI	Frameshift/Missense	2q32	601724	Recessive	PNDM	Developmental delay, cerebellar hypoplasia and visual impairment	Insulin
NEUROG3	Nonsense mutation	10q21.3	604882	Recessive	PNDM	Malabsorptive Diarrhoea	Insulin
NKX2-2	Missense/nonsense	14q13.3	604612	Recessive	PNDM	Short stature, hearing impairment and development delay	Insulin
PDXI (IPFI)	Missense mutation	13.q12.1	600733	Recessive	PNDM	Pancreatic agencies in some cases	Insulin
RFX6	Missense mutation	6q22.1	612659	Recessive	PNDM	Small bowel atresia and gall bladder hypoplasia	Insulin
STAT3	Missense mutation	17q21.2	102582	Dominant	PNDM	Early onset multiorgan autoimmune disease	-
GATA4	Missense/deletion	8p23.1	600576	Dominant	PNDM/TNDM	Congenital malformation	Insulin
HNF1β	Missense mutation	17q21.3	189907	Dominant	TNDM	Pancreatic hypoplasia and developmental abnormalities	Insulin
SLC2A2	Missense/deletion	3q26.1-q26.3	138160	Recessive	TNDM	Fanconi Bickel Syndrome	Insulin