Table 1.
Summary of mutations and phenotypes in WNT10A, EDAR, and LRP6 genes
| Family | Patient | Gender | Gene | Zygosity | Reference/Mutation | Teeth Missing | Phenotype | SIFT | PolyPhen-2 | GnomAD exome frequency | dbSNP (154) |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | III:2 | M | WNT10A | Homozygous |
NG_012179.1:g.5522_5568dup NM_025216.2:c.99_105dup NP_079492.2:p.(Met36Cysfs*) |
25 |
Hypoplastic enamel Ankylosis; Microdontia |
N/A | N/A | N/A | N/A |
| 2 | V:2 | F | WNT10A |
Compound Heterozygous |
NG_012179.1:g.14508G>A NM_025216.2:c.433G>A NP_079492.2:p.(Val145Met) |
20 | No disto-palatal cusp on maxillary first molars; conically shaped incisors; Over-retained 1˚ teeth. |
0 0.002 |
1 0.999 |
N/A 0.013 916 |
rs543063101 rs121908120 |
| 2 | V:4 | M | WNT10A |
Compound Heterozygous |
NG_012179.1:g.14757T>A NM_025216.2:c.682T>A NP_079492.2: p.(Phe228Ile) |
24 |
0 0.002 |
1 0.999 |
N/A |
rs543063101 rs121908120 |
|
| 3 | IV:1 | F | WNT10A | Homozygous |
NG_012179.1:g.14508G>A NM_025216.2:c.433G>A NP_079492.2:p.(Val145Met) |
18 | Attrition on 1˚ molars; Conically shaped incisors; Prominent mesio-palatal cusps on maxillary molars. | 0 | 1 | N/A | rs543063101 |
| 4 | III:3 | F | WNT10A |
Compound Heterozygous |
NG_012179.1: g.6833C>G NM_025216.2:c.318C>G NP_079492.2:p.(Asn106Lys) NG_012179.1:g.14757T>A NM_025216.2:c.682T>A NP_079492.2:p.(Phe228Ile) |
19 | Conically shaped 1˚ canine; enamel hypoplasia; moderate attrition; no disto-palatal cusps on max first molars; rounded crown morphology on mandibular first molars. | 0.002 | 1 | N/A | N/A |
| 5 | II:2 | F | WNT10A | Heterozygous |
NG_012179.1:g.14757T>A NM_025216.2:c.682T>A NP_079492.2:p.(Phe228Ile) |
9 | Microdontia; over-retained primary teeth. | 0.002 | 0.989 | 0.013 916 | rs121908120 |
| 6 | II:5 | M | WNT10A | Heterozygous |
NG_012179.1: g.6836C>A NM_025216.2:c.321C>A NP_079492.2:p.(Cys107Ter) |
6 | Taurodontism | N/A | N/A | 0.000 621 | rs121908119 |
| III:2 | F | WNT10A | Heterozygous |
NG_012179.1: g.6836C>A NM_025216.2:c.321C>A NP_079492.2:p.(Cys107Ter) |
14 | ||||||
| 7 | III:2 | M | WNT10A | Homozygous |
NG_012179.1:g.14757T>A NM_025216.2: c.682T>A NP_079492.2: p.(Phe228Ile) |
15 | Taurodontism; fusion of maxillary molar roots; Retained primary teeth. | 0.002 | 0.999 | 0.013 916 | rs121908120 |
| 8 | III:4 | F | EDAR | Heterozygous |
NG_008257.1:g.83352C>T NM_022336.3:c.581C>T NP_071731.1:p.(Thr194Ile) |
15 | Taurodontism; Microdontia | 0.012 | 0.999 | 0.000 004 | rs143058412 |
| 9 | III:3 | M | LRP6 | Heterozygous |
NM_002336.2:c.1003C>T NP_002327.2:p.(Arg335*) |
16 | N/A | N/A | N/A | rs1565611848 | |
| 10 | III:1 | M | LRP6 | Heterozygous |
NM_002336.2:c.2747G>T NP_002327.2:p.(Cys916Phe) |
12 | 0 | 1 | N/A | N/A |