WNT10A mutations also associated with agenesis of the maxillary permanent canines, a separate entity.

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Agenesis or isolated hypodontia of the maxillary permanent canines is a very rare dental anomaly . We report on nine unrelated Thai patients with this condition . Three of them had one affected parent . Three heterozygous missense mutations (p .Arg 171 Cys ; p .G ly 213 S er ; and IVS 2 +1 G >A ) were identified in WNT 10 A in six patients . The p .Gly 213 Cys mutation was found in four patients . One of the patients who had p .G ly 213 S er mutation also had peg-shaped (microdontia of the ) maxillary lateral incisors with dens invaginatus . The mothers of two patients who carried the same mutation as their affected sons (p .Gly 213 S er and p .Arg 171 Cys ) had microdontia of the maxillary permanent lateral incisor . Our study has demonstrated for the first time that agenesis of the maxillary permanent canines is a distinct entity , associated with mutations in WNT 10 A . Inheritance appears to be autosomal dominant . Agenesis of the maxillary permanent canines may accompany by microdontia of the maxillary permanent lateral incisors and dens invaginatus of the maxillary permanent lateral incisors . Mutations could not be identified in the coding exons of WNT 10 A in three patients . They might be located outside the coding exons , including the promoter regions . However , it is likely that agenesis of the maxillary permanent canines is a heterogeneous disorder .