Two Novel Mutations in Ectodysplasin-A Identi ed in Syndromic Tooth Agenesis | [Journal of College of Physicians and Surgeons--Pakistan : JCPSP • 2022]

Author(s):

1. Weihong Xie: Guanghua School of Stomatology, Hospital of Stomatology, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Stomatology,Guangzhou, People s,Republic of China

2. Binghui Zeng: Guanghua School of Stomatology, Hospital of Stomatology, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Stomatology,Guangzhou, People s,Republic of China

3. Pei Li: Guanghua School of Stomatology, Hospital of Stomatology, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Stomatology,Guangzhou, People s,Republic of China

4. Duoling Xu: Guanghua School of Stomatology, Hospital of Stomatology, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Stomatology,Guangzhou, People s,Republic of China

5. Dongsheng Yu: Guanghua School of Stomatology, Hospital of Stomatology, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Stomatology,Guangzhou, People s,Republic of China

6. 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

Abstract:

Objective: To discover novel ectodysplasin A (EDA) and wingless type MMTV integration site family, member 10A (WNT10A) mutations in tooth agenesis (TA) patients. Study Design: Case series. Place and Duration of Study: Guanghua School of Stomatology, Guangzhou, China, from March 2018 to August 2020. Methodology: EDA and WNT10A were analysed in eleven TA families by PCR and Sanger sequencing. Bioinformatics and structure modelling analyses were performed after identifying di erent 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 a ecting protein binding. Conclusions: The 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.

Page(s): 570-574

DOI: DOI not available

Published: Journal: Journal of College of Physicians and Surgeons--Pakistan : JCPSP, Volume: 32, Issue: 5, Year: 2022

Keywords:

Whole exome sequencing , WNT 10A , Anodontia , Odontogenesis

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