Table 1.

Clinical characteristics of known and novel NEUROD1 mutations associated to monogenic diabetes

Protein level	c.DNA level	Accession number	Mutation type	Domain	Origin	Sample (%)	Sample type	Met.	Age (years)	AOD (years)	DT	Ref.
p.Arg111Leu	c.332G>T	rs104893649	Missense	Basic adjacent	European descendent	2/94 (2.12)	Type 2 DM	Sanger sequencing	65	40	Insulin	(Malecki et al., 1999)
p.His206Profs*38	c.616_617ins	rs387906384	Frameshift	AD1					74	33	Insulin
p.Glu110Lys	c.328C>A	rs763092306	Missense	Basic adjacent	Iceland	1/3	MODY Families	Sanger sequencing	N/A	N/A	N/A	(Kristinsson et al., 2001)
p.Ser159Pro	c.475T>C	N/A	Missense	N/A	China	1/85 (1.17)	Type 2 DM	Sanger sequencing	27	27	OHA	(Liu et al., 2007)
p.His241Gln	c.723C>G	rs561017686	Missense	AD1	Czech Republic	2/30 (6.66)	MODY	Sanger sequencing	44a	20	Insulin	(Gonsorčíková et al., 2008)
									39	30	OHA + insulin
p.Asp122Glyfs*12	c.364_365ins	N/A	Frameshift	Helix 1	Pakistan	2/44 (4.54)	PNDM	Sanger sequencing	N/A	8b	N/A	(Rubio‐Cabezas et al., 2010)
p.Leu143Alafs*55	c.427_428del	rs1485945978	Frameshift	Helix 2	Hungary				N/A	4b	N/A
p.Pro197His	c.590C>A	rs8192556	Missense	AD1	Turkish	2/43 (4.65)	MODY	NGS panel	15	14	Diet	(Ağladıoğlu et al., 2016)
									13	12	Diet
p.His241Gln	c.723C>G	rs561017686	Missense	AD1	India	4/56 (7.14)	MODY	NGS panel	47	28	OHA	(Chapla et al., 2015)
									35	24	OHA + insulin
p.Glu59Gln	c.175G>C	rs553756272	Missense	N terminus					30	30	OHA
NA	c.−162G>A	rs537184640	NA	5ʹUTR					30	28	OHA
p.Arg103Pro	c.308G>C	N/A	Missense	Basic adjacent	Poland	1/156 (0.64)	MODY	NGS panel	66	23	Insulin	(Szopa et al., 2016)
p.Pro197His	c.590C>A	rs8192556	Missense	AD1	Asian	1/84 (1.19)	MODY	NGS panel	N/A	N/A	N/A	(Ang et al., 2016)
p.Glu59Gln	c.175G>C	rs553756272	Missense	N terminus	India	2/50 (4)	GDM	NGS panel	36	36	OHA	(Doddabelavangala Mruthyunjaya et al., 2017)
p.Phe318Ser	c.953T>C	N/A	Missense	AD2					29	27	OHA
p.His206Profs*38	c.616_617ins	rs387906384	Frameshift	AD1	Japan	4/275 (1.45)	MODY	Sanger sequencing	17	14	Insulin	(Horikawa et al., 2018)
p.Pro245Argfs*17	c.734_734del	N/A	Frameshift	AD1					25	11	Insulin
p.Leu157Arg	c.470T>G	N/A	Missense	N/A					24	10	OHA + insulin
p.His206Thrfs*56	c.616_616del	N/A	Frameshift	AD1					15	12	OHA + insulin
p.Ile150Asn	c.449T>A	N/A	Missense	Helix 2	Turkish	1	PNDM family	NGS panel	13.4	9b	Insulin	(Demirbilek et al., 2018)
p.Phe256Leufs*2	c.766_767del	N/A	Frameshift	AD1	Brazil	1/25 (4)	MODY	Sanger sequencing	30	25	OHA	c

Abbreviations: AD, activating domain, AOD, age of diagnosis; DM, diabetes mellitus; DT, diabetes treatment; GDM, gestational diabetes mellitus; Met, methodology; N/A, not available/not applicable; OHA, oral hypoglycemic agents; PNDM, permanent neonatal diabetes mellitus; Ref., references; UTR, untranslated.

^aAge at death.

^bWeeks.

^cNovel mutation identified in this study.