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Screening PAX9, MSX1 and WNT10A Mutations in 4 Iranian Families with Non-Syndromic Tooth Agenesis

BACKGROUND: Tooth agenesis is one of the most common developmental anomalies in human and the main reasons for its occurrence are still unknown. Mutations of several genes such as PAX9, MSX1, AXIN2, KDF1 and WNT10A have been reported which are associated with non-syndromic tooth agenesis. However, P...

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Autores principales: Safari, Shiva, Ebadifar, Asghar, Najmabadi, Hossien, Kamali, Koorosh, Abedini, Seyedeh Sedigheh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Avicenna Research Institute 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7502159/
https://www.ncbi.nlm.nih.gov/pubmed/33014315
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author Safari, Shiva
Ebadifar, Asghar
Najmabadi, Hossien
Kamali, Koorosh
Abedini, Seyedeh Sedigheh
author_facet Safari, Shiva
Ebadifar, Asghar
Najmabadi, Hossien
Kamali, Koorosh
Abedini, Seyedeh Sedigheh
author_sort Safari, Shiva
collection PubMed
description BACKGROUND: Tooth agenesis is one of the most common developmental anomalies in human and the main reasons for its occurrence are still unknown. Mutations of several genes such as PAX9, MSX1, AXIN2, KDF1 and WNT10A have been reported which are associated with non-syndromic tooth agenesis. However, PAX9, MSX1 and WNT10A are commonly reported in the literature. Hence, the aim of this study was to investigate the mutations of these genes in 4 Iranian families with non-syndromic tooth agenesis. METHODS: DNA extractions from peripheral blood cells of patients with non-syndromic tooth agenesis from 4 unrelated Iranian families were performed by salting out method, and the candidate genes were amplified then followed by Sanger sequencing method. RESULTS: One missense variant (rs4904210) and 4 Single Nucleotide Polymorphisms (SNPs) (rs2236007, rs12883298, rs12882923 and rs12883049) were found in PAX9 gene. Five variants (rs149370601, rs8670, rs186861426 and rs774949973) including a missense variant (rs36059701) were detected in MSX1 gene and no variants were found in WNT10A gene. CONCLUSION: All variants were analyzed based on bioinformatics websites and Iranian gene databases, and as a result, it was revealed that variants of PAX9, MSX1 and WNT10A may not play a role in non-syndromic tooth agenesis among Iranian cases.
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spelling pubmed-75021592020-10-02 Screening PAX9, MSX1 and WNT10A Mutations in 4 Iranian Families with Non-Syndromic Tooth Agenesis Safari, Shiva Ebadifar, Asghar Najmabadi, Hossien Kamali, Koorosh Abedini, Seyedeh Sedigheh Avicenna J Med Biotechnol Original Article BACKGROUND: Tooth agenesis is one of the most common developmental anomalies in human and the main reasons for its occurrence are still unknown. Mutations of several genes such as PAX9, MSX1, AXIN2, KDF1 and WNT10A have been reported which are associated with non-syndromic tooth agenesis. However, PAX9, MSX1 and WNT10A are commonly reported in the literature. Hence, the aim of this study was to investigate the mutations of these genes in 4 Iranian families with non-syndromic tooth agenesis. METHODS: DNA extractions from peripheral blood cells of patients with non-syndromic tooth agenesis from 4 unrelated Iranian families were performed by salting out method, and the candidate genes were amplified then followed by Sanger sequencing method. RESULTS: One missense variant (rs4904210) and 4 Single Nucleotide Polymorphisms (SNPs) (rs2236007, rs12883298, rs12882923 and rs12883049) were found in PAX9 gene. Five variants (rs149370601, rs8670, rs186861426 and rs774949973) including a missense variant (rs36059701) were detected in MSX1 gene and no variants were found in WNT10A gene. CONCLUSION: All variants were analyzed based on bioinformatics websites and Iranian gene databases, and as a result, it was revealed that variants of PAX9, MSX1 and WNT10A may not play a role in non-syndromic tooth agenesis among Iranian cases. Avicenna Research Institute 2020 /pmc/articles/PMC7502159/ /pubmed/33014315 Text en Copyright© 2020 Avicenna Research Institute http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Safari, Shiva
Ebadifar, Asghar
Najmabadi, Hossien
Kamali, Koorosh
Abedini, Seyedeh Sedigheh
Screening PAX9, MSX1 and WNT10A Mutations in 4 Iranian Families with Non-Syndromic Tooth Agenesis
title Screening PAX9, MSX1 and WNT10A Mutations in 4 Iranian Families with Non-Syndromic Tooth Agenesis
title_full Screening PAX9, MSX1 and WNT10A Mutations in 4 Iranian Families with Non-Syndromic Tooth Agenesis
title_fullStr Screening PAX9, MSX1 and WNT10A Mutations in 4 Iranian Families with Non-Syndromic Tooth Agenesis
title_full_unstemmed Screening PAX9, MSX1 and WNT10A Mutations in 4 Iranian Families with Non-Syndromic Tooth Agenesis
title_short Screening PAX9, MSX1 and WNT10A Mutations in 4 Iranian Families with Non-Syndromic Tooth Agenesis
title_sort screening pax9, msx1 and wnt10a mutations in 4 iranian families with non-syndromic tooth agenesis
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7502159/
https://www.ncbi.nlm.nih.gov/pubmed/33014315
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