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. 2013 Aug 22;8(8):e73705. doi: 10.1371/journal.pone.0073705

Table 3. Candidate gene genotypes and tooth agenesis phenotypes.

fam sex age genotype (protein) inherit- ance n ta all n ta per jaw right
 left
8 7 6 5 4 3 2 1 1 2 3 4 5 6 7 8
250 f 10 MSX1: ad (de 14 11 U * * * * * *
N222KfsX118/- novo) L * * * * * * * *
219 f 15 MSX1:K237SfsX2/- ad 12 8 U * * * p p * * *
L * * * * * *
283 f 11 PAX9:R47P/- ad 11 7 U * * p * * *
L * * * * * *
272 f 23 PAX9:I56T/- ad 9 5 U * * * * * *
L * * *
204 f 11 PAX9:K114X/- ad (de 9 5 U * * * * * *
novo) L * * *
278 f 28 PAX9:Q136X/- ad 11 7 U * * * * * * *
L * * * *
41 m 12 EDA: Xl (de 5 3 U * *
IPGIPG novo) u * *
205-210del l
L c c * c
412 f 6 EDA:T301SfsX5/- Xl 29 18 U ? * * * * * * * * ?
u * * * * *
l * c p * * * c * *
L * * * * * * * * * *
46 m 13 EDA:R357W Xl 18 8 U * * * c * * *
u * * * *
l * * * *
L * * * *
406 f 17 EDA:T378M/- Xl 8 8 U * * *
L * * * * *
47 f 6 EDAR:R325W/- ad? 4 2 U ? * * ?
u * *
l
L ? ?
52 m 13 EDAR:R325W/- ac 5 4 U *
; EDARADD:S103F/- u
l *
L * * *
266 f 19 EDAR:R325W/- ac 15 9 U * * * * * * * *
; WNT10A:G165R/- u * *
; EDARADD:S103F/- l
L * * * * *
67 m 5 EDAR:R358Q/- ad? 10 5 U ? * * ?
u * *
l * * *
L ? * * * ?
49 f 17 EDAR:E379K/- ad? 8 4 U * *
u * *
l * *
L * *
108 m 7 EDAR:E379K/- ad 4 3 U ? * * ?
u *
l
L ? * ?
221 f 10 EDAR:E379K/- ad? 10 10 U * * * * * * *
L * * *
402 f 18 EDAR:M391K/- ad 13 6 U * *
u * *
l * * *
L * * * * * *
19 m 29 EDARADD:S103F/- ? 6 2 U * p p *
L * * * *
230 f 35 EDARADD:S103F/- ? 10 6 U * * * *
L * * * * * *
245 f 21 EDARADD:S103F/- ? 14 12 U * * * * * * * *
L * * * * * *
269 f 21 EDARADD:S103F/- ? 12 8 U * * * * * *
L * * * * * *
209 f 24 EDARADD:R170W/- ad? 11 7 U * * p p * * *
L * * * * * *
276 m 43 WNT10A:R70W/- ac 10 6 U * * * * *
; EDARADD:S103F/- L * * * * *
253 m 54 WNT10A: ar 12 8 U * * * * * *
R113C/R113C L * * * * * *
68 m 22 WNT10A: ar 14 12 U * * * * * *
R113C/F228I L * * * * * * * *
265 f 8 WNT10A: ar 9 5 U * ? * *
R113C/F228I L * * * * * *
208 f 27 WNT10A:R113C ar 22 16 U * * * * * * * * * * * *
/E194AfsX28 u * *
l
L * * * * * * * *
242 f 16 WNT10A:R113C/- ac 9 6 U * * * * * * *
; EDARADD:S103F/- L * *
299 f 54 WNT10A:R113C/- ac 12 8 U * * * * * *
; EDARADD:S103F/- L * * * * * *
45 f 15 WNT10A:V145M/- ar? 12 10 U * * * *
u * *
l
L * c * * * * *
210 f 22 WNT10A:V145L/- ac 17 13 U * * * * * * * *
; EDARADD:S103F/- L * * * * * * * * *
48 m 18 WNT10A:L154M/- ad? 4 4 U *
L * * *
42 m 11 WNT10A:G165R/- ? 34 18 U * * * * * * * * *
u * * * * * *
l * * * * * *
L * * * * * * * * * * * * *
244 f 11 WNT10A:G165R/- ? 12 8 U * * * * * *
L * * * * * *
259 f 37 WNT10A:G165R/- ? 9 6 U * * * * *
L * * * *
277 m 11 WNT10A:G165R/- ac 10 10 U ? * * * * * * ?
; EDARADD:S103F/- L ? * * * * ?
282 f 20 WNT10A:G165R/- ? 12 8 U * * * * * * * *
L * * * *
207 m 11 WNT10A: ar 15 11 U * * * p * *
E222X/F228I L * * * * * * * * * *
106 m 7 WNT10A: ar 15 15 U ? * * p p * * * ?
F228I/F228I L ? * * * * * * * * * * ?
206 f 33 WNT10A: ar 15 11 U * * * * * * * * *
F228I/F228I L * * * * * *
233 f 16 WNT10A: ar 8 6 U * * * *
F228I/F228I L * * * *
239 m 44 WNT10A: ar 18 14 U * * * * * * * * *
F228I/F228I L * * * * * * * * *
243 m 43 WNT10A: ar 10 7 U * * * *
F228I/F228I L * * * * * *
270 f 12 WNT10A: ar 22 18 U * * * * * * * * * * *
F228I/F228I L * * * * * * * * * * *
12 f 49 WNT10A:F228I/- ? 11 7 U * * * * *
L * * * * * *
51 m 9 WNT10A:F228I/- ad? 4 4 U * *
L * *
214 m 11 WNT10A:F228I/- ? 10 6 U * * * * * *
L * * * *
217 m 10 WNT10A:F228I/- ? 15 11 U * * * * * * * * * *
L * * * * *
229 m 12 WNT10A:F228I/- ? 12 8 U * * * * * *
L * * * * * *
246 f 9 WNT10A:F228I/- ad? 6 6 U * * * *
L * *
254 m 17 WNT10A:F228I/- ? 8 5 U * * * *
L * * * *
257 f 20 WNT10A:F228I/- ? 10 8 U * * * * * * *
L * * *
261 m 16 WNT10A:F228I/- ? 13 9 U * * * * * *
L * * * * * * *
*

fam, family; f, female; m, male; n ta all, amount of missing teeth; n ta per, amount of missing permanent teeth excluding the third molars; ad, autosomal dominant; ar, autosomal recessive; Xl, X-linked; ac, combinations of alleles of different genes; U, maxillary permanent teeth; L, mandibular permanent teeth; u, maxillary deciduous teeth; l, mandibular deciduous teeth; p, peg-shaped; c, conical; s, abnormally small