TABLE 1.
The identified WNT10A variants in subjects with tooth agenesis or peg-shaped upper lateral incisors.
| Family | Patient | Dental arch |
Tooth |
|||||||||||||||||||
| 8 | 7 | 6 | 5 | 4 | 3 | 2 | 1 | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | Number of missing teeth (excluding 3rd molars) | Mode | Mutation | Amino acid change | |||
| 1 | Patient 1 | Upper | • | • | □ | □ | • | • | ||||||||||||||
| Lower | • | • | • | • | • | x | 9 | Het | c.916_918dup | p.Asn360dup | ||||||||||||
| 2 | Patient 2 | Upper | • | • | • | • | ||||||||||||||||
| Lower | • | • | 6 (4) | Het | c.637G > A | p.Gly213Ser | ||||||||||||||||
| 3 | Patient 3 | Upper | • | • | • | • | • | • | • | |||||||||||||
| Lower | • | • | • | • | • | 12 (8) | Homo | c.637G > A | p.Gly213Ser | |||||||||||||
| Patient 3’s older sister | Upper | • | • | |||||||||||||||||||
| Lower | □ | □ | □ | □ | □ | 2 | Het | c.637G > A | p.Gly213Ser | |||||||||||||
| 4 | Patient 4 | Upper | □ | □ | ||||||||||||||||||
| Lower | • | • | 2 | Het | c.511C > T | p.Arg171Cys | ||||||||||||||||
| 5 | Patient 5a | Upper | • | • | ■ | ■ | • | |||||||||||||||
| (II.3) | Lower | • | • | • | 8 (4) | Homo | c.511C > T | p.Arg171Cys | ||||||||||||||
| Patient 5’s sister | Upper | ■ | ■ | |||||||||||||||||||
| (II.2) | Lower | ■ | □ | • | 4 (2) | Het | c.511C > T | p.Arg171Cys | ||||||||||||||
| Patient 5’s mother | Upper | □ | □ | |||||||||||||||||||
| (I.2) | Lower | 0 | Het | c.511C > T | p.Arg171Cys | |||||||||||||||||
1, central incisor; 2, lateral incisor; 3, canine; 4, first premolar; 5, second premolar; 6, first molar; 7, second molar; 8, third molar.; •, missing tooth; ■, missing upper lateral incisor; □, peg-shaped upper lateral incisors; x, extraction; NA, not available; Het, heterozygous; Homo, homozygous.aThe heterozygous missense variant, c.413A > T (p.Asn138Ile), in EDARADD was also found in Patient 5.