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
joddd-16-107.pdf - Published Version
Download (379kB)
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 |