WNT10B mutations associated with isolated dental anomalies |
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| Authors: | P.N. Kantaputra A. Hutsadaloi M. Kaewgahya W. Intachai R. German M. Koparal C. Leethanakul A. Tolun J.R. Ketudat Cairns |
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| Affiliation: | 1. Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang Mai, Thailand;2. Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand;3. Dentaland Clinic, Chiang Mai, Thailand;4. Dental Home Clinic, Khon Kaen, Thailand;5. Department of Oral and Maxillofacial Surgery, Adiyaman University, Adiyaman, Turkey;6. Orthodontic Section, Department of Preventive Dentistry, Faculty of Dentistry, Prince of Songkla University, Hat Yai, Thailand;7. Department of Molecular Biology and Genetics, Bo?azi?i University, Istanbul, Turkey;8. School of Chemistry, Institute of Science, and Center for Biomolecular Structure Function and Application, Suranaree University of Technology, Nakhon Ratchasima, Thailand;9. Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand |
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| Abstract: | ![]()
Isolated hypodontia is the most common human malformation. It is caused by heterozygous variants in various genes, with heterozygous WNT10A variants being the most common cause. WNT10A and WNT10B are paralogs that likely evolved from a common ancestral gene after its duplication. Recently, an association of WNT10B variants with oligodontia (severe tooth agenesis) has been reported. We performed mutational analysis in our cohort of 256 unrelated Thai families with various kinds of isolated dental anomalies. In 7 families afflicted with dental anomalies we detected 4 heterozygous missense variants in WNT10B. We performed whole exome sequencing in the patients who had WNT10B mutations and found no mutations in other known hypodontia‐associated genes, including WNT10A, MSX1, PAX9, EDA, AXIN2, EDAR, EDARADD, LPR6, TFAP2B, LPR6, NEMO, KRT17, and GREM2. Our findings indicate that the variants c.475G>C [p.(Ala159Pro)], found in 4 families, and c.1052G>A [p.(Arg351His)], found in 1 family, are most probably causative. They also show that WNT10B variants are associated not only with oligodontia and isolated tooth agenesis, but also with microdontia, short tooth roots, dental pulp stones, and taurodontism. |
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| Keywords: | hypodontia microdontia oligodontia split hand‐foot malformation taurodontism tooth agenesis WNT10A |
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