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

Safari, Shiva and Ebadifar, Asghar and Najmabadi, Hossien and Kamali, Koorosh and Abedini, Seyedeh Sedigheh and Mousavi, Mohammad (2022) Detection of a rare AXIN2 variant in an Iranian family with hypodontia and oligodontia. Journal of Dental Research, Dental Clinics, Dental Prospects, 16 (2). pp. 107-111. ISSN 2008-210X

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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.

Item Type: Article
Subjects: Eprints STM archive > Medical Science
Depositing User: Unnamed user with email admin@eprints.stmarchive
Date Deposited: 25 May 2023 11:16
Last Modified: 16 Jan 2024 05:04
URI: http://public.paper4promo.com/id/eprint/486

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