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. 2020 Nov 19;11:573214. doi: 10.3389/fphys.2020.573214

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.