Table 1.
Summary of phenotypic features of the three families with deletions of TP63
| Family number | Individual ID | Orofacial clefting | Dental phenotype | Additional features |
|---|---|---|---|---|
| W11–4934 | I1 | – | Unknown | Hypoplastic nails, plantar hyperkeratosis, coarse hair, skin cancer |
| II2 | – | Hypodontia | Hypoplastic nails, psoriasis | |
| II3 | CLP (bilateral) | Hypodontia | Hypoplastic nails, plantar hyperkeratosis | |
| II4 | CLP (unilateral) | Hypodontia | Hypoplastic nails, plantar hyperkeratosis pyloric stenosis | |
| II5 | – | – | Choanal atresia (unilateral), psoriasis, plantar hyperkeratosis, coarse hair, nabothian cervix cysts SADNI | |
| III1 | – | Hypodontia | Unknown | |
| III2 | – | Hypodontia | Choanal atresia (unilateral) | |
| III4 | – | Taurodontism upper molars | Choanal atresia (unilateral), psoriasis, fair coarse hair | |
| III5 | – | Duplicated upper incisor, broad dental pulp incisor | Choanal atresia (unilateral), fair coarse hair, mandibular hypoplasia, low IgA | |
| W12–0831 | II2 | – | – | Duplicated thumb |
| II4 | – | – | Duplicated thumb | |
| III3 | CLP | – | – | |
| III4 | CPO | – | – | |
| IV1 female | – | – | Dry skin, duplicated thumb | |
| IV3 | CLP (unilateral) | Hypodontia | – | |
| V1 | CLP | – | – | |
| W16–065 | II1 | CLP (unilateral) | Several teeth extracted and had mandibular surgery for correction of asymmetry and overbite | Lichen sclerosus |
CLP cleft lip with or without cleft palate, CPO cleft palate only, SADNI selective antibody deficiency with normal immunoglobulins