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J Dent Res Dent Clin Dent Prospects. 2022;16(2): 107-111.
doi: 10.34172/joddd.2022.018

Scopus ID: 85139955836
  Abstract View: 91
  PDF Download: 60

Basic Research

Original Article

Detection of a rare AXIN2 variant in an Iranian family with hypodontia and oligodontia

Shiva Safari 1 ORCID logo, Asghar Ebadifar 2* ORCID logo, Hossien Najmabadi 3, Koorosh Kamali 4, Seyedeh Sedigheh Abedini 3, Mohammad Mousavi 5

1 Orthodontist, Private Practice, Tehran, Iran
2 Dentofacial Deformities Research Center, Research Institute of Dental Sciences, Department of Orthodontic, Faculty of Dentistry, Shahid Beheshti University of Medical Sciences, Tehran, Iran
3 Genetic Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
4 Department of Public Health, School of Public Health, Zanjan University of Medical Sciences, Zanjan, Iran
5 Dentofacial Deformities Research Center, Research Institute of Dental Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran
*Corresponding Author: Corresponding author: Asghar Ebadifar, Email: , Email: a.ebadifar@sbmu.ac.ir

Abstract

Background. Hypodontia, or the absence of one or more teeth during tooth formation, is a highly prevalent dental anomaly. Nevertheless, the main causes are still unknown. Mutations in PAX9, MSX1, WNT10A, and AXIN2 genes are most commonly associated with non-syndromic tooth agenesis in the literature. This study investigated these candidate genes in an Iranian family with non-syndromic hypodontia and oligodontia.

Methods. Peripheral blood samples of the proband and her family members were collected, and DNA extractions using the salting-out method were carried out. In addition, polymerase chain reaction (PCR) and Sanger sequencing for candidate genes were performed.

Results. A missense variant (rs4904210) was identified in the PAX9 gene, with one heterozygous missense variant (rs2240308) and one stop-gained variant (rs121908568) in the AXIN2 gene.

Conclusion. By surveying similar studies and analyzing the variant in bioinformatics websites, we concluded that the heterozygous stop-gained variant rs121908568 in exon 8 of the AXIN2 gene could be responsible for tooth agenesis in the Iranian population.

Keywords: PAX9, MSX1, AXIN2, Oligodontia
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Submitted: 22 Nov 2021
Accepted: 04 Feb 2022
ePublished: 15 Oct 2022
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