Table 1

Clinical symptoms and genotype in 19 non-syndromic and 11 syndromic hypodontia patients with WNT10A mutations

ProbandGenotypeGenderAgeFamily history*TeethHairSkin
Number missing teethAbnormal shapeScalpEyebrowsDry skinHypohidrosisPlantar hyperkeratosisNails
Non-syndromic1p.[C107*]+[=]F22+16+
2p.[C107*]+[=]M39+15+Am±
3p.[R128Q]+[=]F19+20+±
4p.[R163W]+[=]F11+12
5p.[F228I]+[=]F2810+
6p.[F228I]+[=]F32+14
7p.[N306K]+[=]M1813+E
8p.[G95K]+[F228I]M1428+
9p.[C107*]+[F228I]M1014+
10p.[C107*]+[F228I]M14+26+
11p.[C107*]+[F228I]F16+14+±
12p.[V145M]+[V145M]M18+26+
13p.[F228I]+[F228I]F13+10+
14p.[F228I]+[F228I]M12+17+
15p.[F228I]+[F228I]F15+13+
16p.[F228I]+[F228I]F1510+
17p.[F228I]+[F228I]M18+11
18p.[F228I]+[F228I]M19+15+
19p.[F228I]+[F228I]F29+12+
Syndromic1p.[C107*]+[=]M9+12+E+
2p.[C107*]+[=]M22+13++
3p.[F228I]+[=]F3411+
4p.[F228I]+[=]M45+18++++±
5p.[C107*]+[C107*]F730+++++
6p.[C107*]+[F228I]M8+18++++
7p.[C107*]+[F228I]F12+20++
8p.[C107*]+[F228I]M15+6+±++
9p.[F228I]+[F228I]M8+16?++
10p.[F228I]+[F228I]F4514?+±
11p.[F228I]+[W277C]M11+12+Ab±±
  • * Family members with tooth agenesis.

  • Am, male alopecia; Ab, abnormal hair structure, E, Eczema; +, present; –, absent; ±, very mild.