Table 1.
Summary of clinical data and mutations in EDA, EDAR, and WNT10A genes in family 1–7.
| Family | Patient | Age and Gender | Gene Involved | Nucleotide Change | Amino Acid Change | Domain | Mode of Inheritance | n Missing Primary Teeth |
n
Missing Permanent Teeth † |
|---|---|---|---|---|---|---|---|---|---|
| 1 | II:1 | 4y, M | EDA | c.662G>A | p.Gly221Asp | Collagen | X-linked | 18 | ND |
| 2 | II:2 | 8y, M | EDA | c. 741G>A | p.Gln247Gln | X-linked | 18 | 26 | |
| 3 | III:1 | 6y, M | EDA | c.463C>T | p.Arg155Cys | Furin | X-linked | 5 | 19 |
| 4 | III:1 | 11y, M | EDA | c.1013C>T | p.Thr338Met | TNF | X-linked | ND | 14 |
| 5 | II:1 | 7y, M | EDA | c.895G>A | p.Gly299Ser | TNF | X-linked | 20 | ND |
| 6 | II:2 | 8y, M | EDAR | c.1259G>A | p.Arg420Gln | DD | AD | ND | 7 |
| I:2 | 28y, F | EDAR | c.1259G>A | p.Arg420Gln | DD | AD | ND | 4 | |
| 7 | II:1 | 11y, M | WNT10A | c.354T>G | p.Tyr118* | AR | 0 | 15 | |
| WNT10A | c.637G>A | p.Gly213Ser |
Notes: † Excluding the third molars; bold type indicates novel mutation; y: year; M: male; F: female; Collagen: collagen-like domain; Furin: furin sites; TNF: tumor necrosis factor (TNF) domain; DD: death-like domain; AD: autosomal dominance; AR: autosomal recessive; ND: not defined.