Genetic study of non‐syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member 10A genes: a case‐series

Mastouri, Marwa Haddaji; Coster, Peter De; Zaghabani, Aicha; Jammali, Frej; Raouahi, Nabiha; Salem, A. Ben; Saâd, Ali; Coucke, Paul; Brahim, D. H’mida Ben

doi:10.1111/eos.12391

Cited by 11 publications

(9 citation statements)

References 42 publications

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“…In the past few years, much progress has been made in the identification of the developmental basis of odontogenesis and the genes involved in TA. [6][7][8][9][10][11][12] In fact, genetic polymorphisms in many genes, including MSX1 (msh homeobox 1), 20 PAX9 (paired box 9), 20 FGF3 (fibroblast growth factor 3), 7 FGF10 (fibroblast growth factor 10), 7 FGFR2 (fibroblast growth factor receptor 2), 7 FGFR1 (fibroblast growth factor receptor 1), 21 BMP2 (bone morphogenetic protein 2), 6 BMP4 (bone morphogenetic protein 4), 10,12 TGF 1 (transforming growth factor beta 1), 11 TGF 3 (transforming growth factor beta 3), 10 IRF6 (interferon regulatory factor 6), 9 MMP1 (matrix metalloproteinase 1), 22 MMP20 (matrix metalloproteinase 20), 22 MMP9 (matrix metalloproteinase 9), 10 MMP13 (matrix metalloproteinase 13), 10 and AXIN2 (axin-related protein 2) 20 have been associated with non-syndromic TA. However, to the best of our knowledge, this is the first study evaluating genetic ESR2 and tooth agenesis Marañón-Vásquez et al…”

Section: Discussionmentioning

confidence: 99%

Genetic polymorphism in esr2 and risk of tooth agenesis

Marañón‐Vásquez

Spada

Omori

et al. 2019

CRORJ

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RESUMOIntrodução: A agenesia dentária (AD) é a ausência congênita de um ou mais dentes. Vários estudos vêm sugerindo o forte componente genético para essa condição. Objetivo: O presente estudo teve como objetivo avaliar se os polimorfismos genéticos nos genes que codificam os receptores de estrógeno (ESR1 e ESR2) estão associados à ocorrrência de AD isolada em uma amostra brasileira. Métodos: Radiografias panorâmicas de 142 pacientes ortodônticos foram avaliadas para determinar AD de dentes permanentes (excluindo terceiros molares). O DNA dos pacientes foi extraído das células da mucosa bucal contidas na saliva para avaliar polimorfismos genéticos em ESR1 (rs2234693 e rs9340799) e ESR2 (rs1256049 e rs4986938) por genotipagem usando a técnica de PCR em tempo real. Para análises estatísticas, associações entre as distribuições dos alelos e genótipos e a ocorrrência de AD foram avaliadas para cada polimorfismo genético, com um alfa estabelecido de 5%. Resultados: Treze pacientes tiveram pelo menos 1 dente congenitamente ausente. O número de dentes congenitamente ausentes variou de 1 a 11. Os polimorfismos genéticos rs2234693 e rs9340799 no ESR1 e rs1256049 no ESR2 não foram associados à AD (p > 0,05). Para o polimorfismo genético rs4986938 no ESR2, as distribuições dos genótipos e dos alelos foram estatisticamente diferentes entre os pacientes com e sem AD (p < 0,05). O genótipo CC e o alelo C estavam super-representados nos pacientes com AD. Conclusão: Houve associação entre o polimorfismo genético rs4986938 no ESR2 e a ocorrrência de AD. ABSTRACT Introduction:Tooth agenesis (TA) is the congenital absence of teeth. Several studies have proposed a strong genetic background for this condition. Aim: The present cross-sectional study aimed to evaluate whether genetic polymorphisms in the genes that code for estrogen receptors (ESR1 and ESR2) are associated with the presence of isolated TA in a Brazilian sample. Methods: Panoramic radiographs of 142 orthodontic patients were assessed to determine TA of permanent teeth (excluding third molars). DNA of patients was extracted from buccal cells from saliva to evaluate genetic polymorphisms in ESR1 (rs2234693 and rs9340799) and ESR2 (rs1256049 and rs4986938) by genotyping using the real-time PCR technique. For statistical analyses, associations between the distributions of the alleles and genotypes, and the ocurrence of TA were assessed for each genetic polymorphism, with an established alpha of 5%. Results: Thirteen patients had at least 1 congenital missing tooth. The number of congenitally missing teeth ranged from 1 to 11. The genetic polymorphisms rs2234693 and rs9340799 in ESR1 and rs1256049 in ESR2 were not associated with TA (p > 0.05). For the genetic polymorphism rs4986938 in ESR2, the genotype and allele distributions were significantly different between the patients with and without TA (p < 0.05). The CC genotype and the C allele were overrepresented in the TA patients. Conclusion: The genetic polymorphism rs4986938 in ESR2 was associated with the ocurrence of TA.

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Section: Discussionmentioning

confidence: 99%

Genetic polymorphism in esr2 and risk of tooth agenesis

Marañón‐Vásquez

Spada

Omori

et al. 2019

CRORJ

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“…Mutation of genes affects the sequence of genes in many ways. Recent studies have shown that genes such as PAX9, AXIN2, EDA, SPRY2, TGFA, SPRY4, WNT10A, FGF3, FGF10, FGFR2, and BMP4, are expressed in the odontogenesis process (13). PAX9, MSX1, AXIN2, and EDA are most commonly identified as non-syndromic hypodontia-related genes (14).…”

Section: Prevalence By Type Of Teethmentioning

confidence: 99%

A Scoping Review: Gene Mutations of Nonsyndromic Hypodontia and Its Prevalence in Gender and Type of Teeth

Wan Saimi,

Hadi Ahmad,

Ismail

et al. 2023

JUMMEC

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Non-syndromic hypodontia is a developmental anomaly characterized by the absence of one to six of permanent teeth. The goal of this review was to identify all known gene mutations, prevalence of gender and type of teeth, to review current research and identify knowledge gaps on the topic of nonsyndromic hypodontia. Three electronic databases were performed (Science Direct, PubMed, and Scopus) and restricted to English papers published after 2012 until 2019. Search terms were combined as follows: Hypodontia or 'non-syndromic hypodontia' and 'genes' or 'tooth anomaly' and 'mutation' or 'genes' and were checked against the inclusion criteria independently by two investigators. From 16 studies, five genes currently known caused non-syndromic hypodontia: WNT10A (37 variants, 256 patients), MSX1 (9 variants, 112 patients), PAX9 (17 variants, 79 patients), AXIN2 (8 variants, 60 patients) and EDA (2 variants, 11 patients). It was demonstrated that females exhibited a higher prevalence of hypodontia with 89.3% as compared to males with 84.2%. The most commonly missing teeth was a lateral incisor, followed by second premolar and central incisor. Five genes, including WNT10A, PAX9, MSX1, AXIN2 and EDA, are currently considered to have the ability to cause nonsyndromic hypodontia. Lateral incisor was found to be commonly missing teeth and there was an increased risk for females to have hypodontia than males.

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“…9 It has been suggested that isolated tooth agenesis can result from mutations in MSX1 , PAX9 , WNT10A , AXIN2 , EDA , KDF1 , and SMOC2 genes in autosomal and X-linked traits. 10 - 14 Transcription factor genes MSX1 and PAX9 were the first identified genes responsible for tooth agenesis. 15 …”

Section: Introductionmentioning

confidence: 99%

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

Safari¹,

Ebadifar

Najmabadi

et al. 2022

J Dent Res Dent Clin Dent Prospects

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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.

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Genetic study of non‐syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member 10A genes: a case‐series

Cited by 11 publications

References 42 publications

Genetic polymorphism in esr2 and risk of tooth agenesis

Genetic polymorphism in esr2 and risk of tooth agenesis

A Scoping Review: Gene Mutations of Nonsyndromic Hypodontia and Its Prevalence in Gender and Type of Teeth

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

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