Detection of a Rare AXIN2 Variant in an Iranian Family with Hypodontia and Oligodontia

Overview

Journal J Dent Res Dent Clin Dent Prospects

Specialty Dentistry

Date 2022 Dec 23

PMID 36561383

Authors

Shiva Safari

Asghar Ebadifar

Hossien Najmabadi

Koorosh Kamali

Seyedeh Sedigheh Abedini

Mohammad Mousavi

Affiliations

Soon will be listed here.

Abstract

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 , , , and 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. 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. A missense variant (rs4904210) was identified in the gene, with one heterozygous missense variant (rs2240308) and one stop-gained variant (rs121908568) in the gene. 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 gene could be responsible for tooth agenesis in the Iranian population.

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