Table 3.

A Comparison of the Phenotype Observed in the Patients with Homozygous Mutations in Known Pancreatic Transcription Factors to the Phenotype Observed in Homozygous Inactivation in Mice

Gene	Mutation	Patient		Mouse		References
		Pancreas	Additional Features	Pancreas	Additional Features
GLIS3	c.1.−?_388 + ?del1	neonatal diabetes	renal cystic dysplasia, congenital hypothyroidism, hepatic fibrosis	null: neonatal diabetes	null: neonatal lethality, polycystic kidney disease, congenital hypothyroidism	Watanabe et al., 2009
	c.932 delG	neonatal diabetes	multiple small renal cysts, congenital hypothyroidism, osteopenia, anemia
NEUROD1	c.364 dupG2	neonatal diabetes	learning difficulties, severe cerebellar hypoplasia, sensorineural deafness, retinal dystrophy	null: neonatal diabetes	null: cerebellar hypoplasia, impaired coordination and ataxia, impaired hearing and balance, retinal degeneration, blindness, and seizures	Kim et al., 2001, Liu et al., 2000, Morrow et al., 1999, Naya et al., 1997
PDX1	p.A152G3	neonatal diabetes	none reported	null: pancreatic agenesis hypomorphic mutation: neonatal diabetes	null: abnormal duodenum and stomach morphology hypomorphic mutation: none reported	Jonsson et al., 1994, Offield et al., 1996, Oliver-Krasinski et al., 2009, Stoffers et al., 1997
	p.R176Q3	neonatal diabetes	none reported
PTF1A	c.784 + 4A > G4	pancreatic agenesis	none reported	null: pancreatic agenesis hypomorphic mutation: pancreatic hypoplasia	null: cerebellar hypoplasia hypomorphic mutation: cerebellar hypoplasia	Fukuda et al., 2008, Hoshino et al., 2005, Kawaguchi et al., 2002, Krapp et al., 1998, Sellick et al., 2004
RFX6	p.S217P5	neonatal diabetes	duodenal atresia, gall bladder agenesis	null: neonatal diabetes	null: small bowel atresia	Smith et al., 2010

Some patients have been reported previously by Dimitri et al., 2011, Rubio-Cabezas et al., 2010, De Franco et al., 2013, Lango Allen et al., 2012, and Smith et al. (2010).