Table 5.

Autosomal-recessive amelogenesis imperfecta (ARAI)-causing mutations in kallikrein-related peptidase 4 (KLK4), enamelysin (MMP20), and WD repeat containing domain 72 (WDR72)

No.	Gene	cDNA	Protein	References
KLK4 disease-causing mutation
1	g.2143G > A	c.458G > A	p.W153X	16, 32
MMP20 disease-causing mutations
1	g.115G > A	c.102G > A	p.W34X	18
2	g.16263T > A	c.678T > A	p.H226Q	84
3	g.18,755G > A	c.910G > A	p.A304T	85
4	g.30,574A > T	c.954-2A > T	IVS6-2ART	17, 32
WDR72 disease-causing mutations
1	g.57,427_57,428delAT	c.1467_1468delAT	p.V491DfsX497	15, 32
2	g.143805C > G	c.2348C > G	p.S783X	59
3	g.144143C > T	c.2686C > T	p.R897X	86
4	g.145982delA	c.2857delA	p.S976VX20	59
5	g.150132G > A	c.2934G > A	p.W978X	59

Exons are numbered boxes; introns are lines connecting the exons. The number below the intron indicates its length (in base pairs). The numbers below each exon show the range of amino acids encoded by it. Shaded exon regions are non-coding. Below the WDR72 gene diagram is the WDR72 protein (1104 amino acids) showing the seven WD repeats (boxes), with the range of amino acids indicated below each. Mutation sites are numbered in bold. The gene numbers start from the first nucleotide of the genomic reference sequences (KLK4, NG_012154.1; MMP20, NG_012151.1; WDR72, NG_017034.1). The cDNA numbers start from the translation initiation site (KLK4, NM_004917.3; MMP20, NM_004771.3; WDR72, NM_182758.2).