TABLE 1.

Summary of Mutations in DSPP Resulting in Hereditary Dentin Defects

	cDNA*	Protein†	Diagnosis	Reference
Exon 2	c.16T>G	p.Y6D	DD-II	Rajpar et al. (11)
	c.44C>T	p.A15V	DGI-II	Malmgren et al. (13)
	c.49C>A	p.P17T	DGI-II	Xiao et al. (9)
	c.49C>T	p.P17S	DGI-II	Hart and Hart (6), Zhang et al. (17)
Intron 2	c.52-6T>G	Normal + p.V18_Q45del	DD-II	This report
	c.52-3C>G	p.V18_Q45del	DGI-II	Kim et al. (12)
	c.52-3C>A	p.V18_Q45del	DGI-II	Holappa et al. (15)
Exon 3	c.52G>T	p.V18_Q45del or p.V18F	DGI-II, DGI-III	Xiao et al. (9), Kim et al. (14), Song et al. (16), Holappa et al. (15)
	c.133C>T	p.V18_Q45del or p.Q45X	DGI-II	Zhang et al. (10), Song et al. (16)
Intron 3	c.135 + 1G>A	p.V18_Q45del	DGI-II	Xiao et al. (9)
	c.135 + 1G>T	p.V18_Q45del	DGI-II	McKnight et al. (18)
Exon 5	c.1870_1873delTCAG	p.S624fsX1312	DD-II	McKnight et al. (18)
	c.1918_1921delTCAG	p.S640fsX1312	DD-II	McKnight et al. (18)
	c.2040delC	p.S680fsX1313	DD-II	Song et al. (19)
	c.2272delA	p.S758fsX1313	DGI-II	McKnight et al. (18)
	c.2525delG	p.S842fsX1313	DGI-II	McKnight et al. (18)
	c.2593delA	p.S865fsX1313	DGI-II	Song et al. (19)
	c.2684delG	p.S895fsX1313	DGI-II	Song et al. (19)
	c.3438delC	p.D1146fsX1313	DGI-II	Song et al. (19)
	c.3546_3550delTAGCAinsG	p.D1182fsX1312	DGI-II	Song et al. (19)

^*Numbering assumes the A of the ATG start codon as nucleotide 1 on the basis of reference sequence NM_014208.3.

^†These are mostly predictions.