PMID- 32618450 OWN - Quintessenz Verlags-GmbH CI - Copyright Quintessenz Verlags-GmbH OCI - Copyright Quintessenz Verlags-GmbH TA - Oral Health Prev Dent JT - Oral Health and Preventive Dentistry IS - 1757-9996 (Electronic) IP - 1 VI - 18 PST - epublish DP - 2020 PG - 271-275 LA - en TI - Aetiological Evaluation of Oligodontia in a Three-Generation Family LID - 10.3290/j.ohpd.a44033 [doi] FAU - Ergün, Sezen Güntekin AU - Ergün S FAU - Tuncer, Burcu Baloş AU - Tuncer B FAU - Ergün, Mehmet Ali AU - Ergün M FAU - Kolbaşı, Guyem AU - Kolbaşı G FAU - Orhan, Metin AU - Orhan M FAU - Perçin, Ferda E AU - Perçin F CN - OT - oligodontia OT - dental agenesis OT - whole-exome sequencing OT - WNT10A AB - Purpose: The aim of this study was to assess the genetic evaluation of a three-generation consanguineous family with isolated oligodontia. Materials and Methods: A 16-year-old male patient who had been referred for orthodontic treatment due to the presence of oligodontia, and his family members who presented several missing teeth had been enrolled in the study. Clinical and radiological assessments and genetic analysis including whole-exome sequencing were performed. Results: Genetic evaluations revealed both homozygous and heterozygous mutations (c.T682A:p.F228I) in the WNT10A gene of six affected members of the family. Higher frequency of agenesis of mandibular second molar was found in homozygous relative to heterozygous WNT10A mutations. Conclusion: The present findings have provided evidence for a known variant in the WNT10A gene in a three-generation consanguineous family with isolated oligodontia, while the results confirmed that cases with homozygous mutation revealed clinical heterogeneity. AID - 842294