Table 3.

Mutations in syndromic neonatal diabetes mellitus.

Mechanism	Gene Mutation	Chromosome Locus	Inheritance	Additional Features
Fanconi-Bickel syndrome	SCL2A2 (GLUT2)	3q26.1-26.3	AR	hypergalatosemia; liver dysfunction
Roger syndrome	SCL19A2	1q23.3	AR	thiamine-sensorinueral responsive deafness megaloblastic anemia;
Abnormal development pancreatic	RFX6	6q22.1	AR	intestinal atresia + bladder agenesis
	GATA6	18q11-q11.2	AD	pancreatic biliary abnormalities agenesis; heart defects;
	GATA4	8p23.1	AD	pancreatic agenesis + heart defects
	GLIS3	9p24.3-p23	AR	congenital hepatic fibrosis; hypothyridism; renal cysts glaucoma;
	NEURG3	10q21.3	AR	malabsorbtive diarrhea
	NEUROD1	2q32	AR	cerebellar deafness hypoplasia; visual impairment;
	PAX6	11.p13	AR	microphtalmia; brain malformations
	MNX1	7q36.3	AR	developmental imperforate anus delay; sacral agenesis;
	MNX2-2	20p11.22	AR	developmental deafness delay; hypotonia; short stature;
	PTF1	10.p12.2	AR	pancreatic hypoplasia; cerebellar hypoplasia
Destruction of β-cells
Wolcott-Rallison syndrome	EIF2AK3	2p11.2	de novo or AD	skeletal dysplasia; liver dysfunction
	IER3IP1	18q21.2	AR	microcephaly; lisencephaly; enceph-alopathy
IPEX syndrome	FOXP3	Xp11.23-p13.3	X-recessive linked;	autoimmune autoimmune enteropathy; hypothyroidism; eczema
Wolfram (DIDMOAD)syndrome a	WFS1	4p16.1	AR	optic atrophy; DM; DI
	WFS1	4p16.1	AD	congenital cataracts; deafness

AR: autosomal recessive; AD: autosomal dominant.

^a Also known as Wolfram syndrome (see text).