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Background  The WNT10A protein is critical for the development of ectodermal appendages. Variants in the  WNT10A  gene may be associated with a spectrum of ectodermal abnormalities including extensive tooth agenesis.    Methods  In seven patients with severe tooth agenesis we identified anomalies in primary dentition and additional ectodermal symptoms, and assessed  WNT10A  mutations by genetic analysis.    Results  Investigation of primary dentition revealed peg-shaped crowns of primary mandibular incisors and three individuals had agenesis of at least two primary teeth. The permanent dentition was severely affected in all individuals with a mean of 21 missing teeth. Primary teeth were most often present in positions were succedaneous teeth were missing. Furthermore, most existing molars had taurodontism. Light, brittle or coarse hair was reported in all seven individuals, hyperhidrosis of palms and soles in six individuals and nail anomalies in two individuals. The anomalies in primary dentition preceded most of the additional ectodermal symptoms. Genetic analysis revealed that all seven individuals were homozygous or compound heterozygous for  WNT10A  mutations resulting in C107X, E222X and F228I.    Conclusions  We conclude that tooth agenesis and/or peg-shaped crowns of primary mandibular incisors, severe oligodontia of permanent dentition as well as ectodermal symptoms of varying severity may be predictors of bi-allelic  WNT10A  mutations of importance for diagnosis, counselling and follow-up.

Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency