• Weihong Xie, Binghui Zeng, Pei Li, Duoling Xu, Dongsheng Yu, and Wei Zhao.
• Guanghua School of Stomatology, Hospital of Stomatology, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Stomatology, Guangzhou, People's Republic of China.
• J Coll Physicians Surg Pak. 2022 May 1; 32 (5): 570-574.

ObjectiveTo discover novel ectodysplasin-A (EDA) and wingless-type MMTV integration site family, member 10A (WNT10A) mutations in tooth agenesis (TA) patients.Study DesignCase series.Place And Duration Of StudyGuanghua School of Stomatology, Guangzhou, China, from March 2018 to August 2020.MethodologyEDA and WNT10A were analysed in eleven TA families by PCR and Sanger sequencing. Bioinformatics and structure modelling analyses were performed after identifying different variants, to predict the resulting conformational alterations in WNT10A and EDA.Results Two novel mutations (c.796C>A (p.L266I), c.769G>A (p.G257R)) in EDA and two reported mutations (c.637G>A (p.G213S), c.511C>T (p.R171C))in WNT 10A were detected. Combined with the 3D structural analysis, we discovered a correlation between alterations in hydrogen bond formation and the observed phenotypes, potentially affecting protein binding.ConclusionsThe mutations were predicted to be pathogenic through bioinformatics analyses. In addition, by identifying novel mutations, our knowledge regarding the TA spectrum and tooth development was considerably expanded.Key Words Anodontia, EDA, WNT 10A, Whole exome sequencing, Odontogenesis.

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