TABLE 2.

Mutations in the coding sequence of the signal peptide, DSP and DPP associated with DGI-II.

Gene	Location	cDNA	Protein	Mutation class	Enamel affected	DEJ affected	References
Signal peptide	Exon 2	c.15C>T	p.(Ala15Val)	Missense	-	-	Malmgren et al. (2004)
DSP	Exon 2	c.49C>T	p.(Pro17Ser)	Missense	Thin and hypoplastic	Flat	Hart and Hart (2007), Zhang et al. (2007), Taleb et al. (2018), Qu et al. (2009)
DSP	Exon 2	c.49C>A	p.(Pro17Thr)	Missense	-	-	Xiao et al. (2001)
DSP	Exon 2	c.50C>T	p.(Pro17Leu)	Missense	-	-	Li et al. (2012), Porntaveetus et al. (2019), Lee et al. (2013), Hu et al. (2018)
DSP	Intron 2	c.52-1G>A	p.(Val18_Gln45del)	Splice site	-	-	Liu et al. (2016)
DSP	Intron 2	c.52-3C>A	p.(Val18_Gln45del)	Splice site	-	-	Holappa et al. (2006), Lee et al. (2011a), Wang et al. (2009)
DSP	Intron 2	c.52-3C>G	p.(Val18_Gln45del)	Splice site	-	-	Li et al. (2012), Lee et al. (2011a), Kim et al. (2004)
DSP	Intron 2	c.52-2A>G	p.(Val18_Gln45del)	Splice site	Thin and hypoplastic	Flat	Taleb et al. (2018)
DSP	Exon 3	c.52G>T	p.(V18F + p.V18_Q45del)	Missense	Enamel defects	Flat and wilder	Holappa et al. (2006), Lee et al. (2011a), Kim et al. (2004), Kim et al. (2005), Song et al. (2006)
DSP	Exon 3	c.53T>A	p.(Val18Asp)	Missense	Enamel defects	-	Kida et al. (2009), Lee et al. (2009), Lee et al. (2011b)
DSP	Exon 3	c.53T>G	p. (Val18Gly)	Missense	Enamel defects	-	Du et al. (2021)
DSP	Exon 3	c.133C>T	p.(Gln45X)	Nonsense	-	-	Song et al. (2006), Zhang et al. (2001)
DSP	Intron 3	c.135 + 2T>C	Splice+2T>C	Splice site	-	-	Zhang et al. (2011)
DSP	Exon 3	c.135G>T	p.(Gln45His)	Missense	Thin and hypoplastic	Flat	Taleb et al. (2018)
DSP	Intron 3	c.135 + 3A>G	p.(Val18_Gln45del)	Splice site	-	-	Bai et al. (2010)
DSP	Intron 3	c.135 + 1G>A	p.(Val18_Gln45del)	Splice site	-	-	Xiao et al. (2001)
DSP	Intron 3	c.135 + 1G>T	p.(Val18_Gln45del)	Splice site	-	-	McKnight et al. (2008a)
DSP	Exon 4	c.202A>T	p.(Arg68Trp)	Missense	-	-	Malmgren et al. (2004), Holappa et al. (2006)
DPP	Exon 5	c.1915_1918delAAGT	p.(Lys629GlnfsX674)	Frameshift	Uneven enamel surface	-	Porntaveetus et al. (2018)
DPP	Exon 5	c.2272delA	p.(Ser758AlafsX554)	Frameshift	-	-	McKnight et al. (2008a)
DPP	Exon 5	c.2349delT	p.(Ser783ArgfsX531)	Frameshift	-	-	Nieminen et al. (2011)
DPP	Exon 5	c.2525delG	p.(Ser842ThrfsX471)	Frameshift	-	-	McKnight et al. (2008a)
DPP	Exon 5	c.2593delA	p.(Ser865fsX1313)	Frameshift	-	-	Song et al. (2008)
DPP	Exon 5	c.2666delG	p.(Ser889ThrfsX425)	Frameshift	-	-	Nieminen et al. (2011)
DPP	Exon 5	c.2684delG	p.(Ser895MetfsX1313)	Frameshift	-	-	Song et al. (2008)
DPP	Exon 5	c.2684delG	p.(Ser895MetfsX418)	Frameshift	-	-	Li et al. (2017)
DPP	Exon 5	c.2688delT	p.(Asp896GlufsX418)	Frameshift	No obvious changes	-	Park et al. (2020), Lee et al. (2011c)
DPP	Exon 5	c.3438delC	p.(Asp1146fsX1313)	Frameshift	-	-	Song et al. (2008)
DPP	Exon 5	c.3504_3508dup	p.(Asp1170AlafsX146)	Frameshift	-	-	Yang et al. (2016a)
DPP	Exon 5	c.3509_3521del13bp	p.(Asp1170AlafsX139)	Frameshift	-	-	Li et al. (2017)
DPP	Exon 5	c.3546_3550delTAGCAinsG	p.(Asp1182fsX1312)	Frameshift	-	-	Song et al. (2008)
DPP	Exon 5	c.3560delG	p.(Ser1187MetfsX127)	Frameshift	-	-	Lee et al. (2011c)
DPP	Exon 5	c3582_3591delCAGCAGCGAT	p.(Asp1194GlufsX117)	Frameshift	-	-	Nieminen et al. (2011)
DPP	Exon 5	c.3625_3700del76bp	p.(Asp1209AlafsX80)	Frameshift	-	-	Nieminen et al. (2011)
DPP	Exon 5	c.3676delA	p.(Ser1226Alafs X88)	Frameshift	Enamel defects	-	Bloch-Zupan et al. (2016)

(“-” refers to not mentioned in the corresponding literature).