Characterization of a novel mutation in PAX9 gene in a family with non-syndromic dental agenesis

Mastouri, Marwa Haddaji; Coster, Peter De; Zaghabani, Aicha; Trabelsi, Saoussen; May, Yosra; Saâd, Ali; Coucke, Paul; Brahim, D. H’mida Ben

doi:10.1016/j.archoralbio.2016.07.009

Cited by 14 publications

(7 citation statements)

References 43 publications

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“…In our earlier study, we conjectured that Gly203Gly would have no significant impact on the tooth development as it was present in both healthy controls and patients with tooth agenesis . Haddaji Masttouri et al found that Lys172Lys was present only in 4 affected family members and not in 89 control individuals. This might be taken as an indication that the mutation is causative, but an association study with much larger cohort would be needed before more positive conclusions are made.…”

Section: Mutations and Polymorphisms In The Pax9 Genementioning

confidence: 99%

“…Two studies including one our study investigating population samples from Central European region (Czech Republic and Poland) and the other 2 were Tunisian and Brazilian family studies. Polymorphisms rs12883298, rs12882923 and rs12883049 were identified as having possible influence on the occurrence of hypodontia but all 4 studies recommended further research with larger cohorts of subjects …”

Section: Mutations and Polymorphisms In The Pax9 Genementioning

confidence: 99%

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PAX9 gene mutations and tooth agenesis: A review

2017

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Paired box 9 (PAX9) is one of the best-known transcription factors involved in the development of human dentition. Mutations in PAX9 gene could, therefore, seriously influence the number, position and morphology of the teeth in an affected individual. To date, over 50 mutations in the gene have been reported as associated with various types of dental agenesis (congenitally missing teeth) and other inherited dental defects or variations. The most common consequence of PAX9 gene mutation is the autosomal-dominant isolated (non-syndromic) oligodontia or hypodontia. In the present review, we are summarizing all known PAX9 mutations as well as their nature and precise loci in the DNA sequence of the gene. Where necessary, we have revised the loci of the mutations in line with the reference sequence of the PAX9 gene as it appears in the current DNA databases.

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Section: Mutations and Polymorphisms In The Pax9 Genementioning

confidence: 99%

Section: Mutations and Polymorphisms In The Pax9 Genementioning

confidence: 99%

PAX9 gene mutations and tooth agenesis: A review

2017

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“…Until now, and despite the high prevalence of familial forms of NSTA , few studies have been performed on tooth agenesis in the Tunisian population. Our previous study represents the initial Tunisian genetic study which identified a novel frameshift mutation in the PAX9 gene in a family with mixed hypodontia and oligodontia phenotypes . More studies are, however, needed in larger Tunisian population samples to elucidate the etiopathogenesis of dental agenesis and genotype–phenotype correlations.…”

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confidence: 99%

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

Coster

Zaghabani

et al. 2017

European J Oral Sciences

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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. Eur J Oral Sci 2018; 126: 24-32. © 2017 Eur J Oral Sci Non-syndromic tooth agenesis (NSTA) is the most common developmental anomaly in humans. Several studies have been conducted on dental agenesis and numerous genes have been identified. However, the pathogenic mechanisms responsible for NSTA are not clearly understood. We studied a group of 28 patients with sporadic NSTA and nine patients with a family history of tooth agenesis. We focused on four genes -paired box 9 (PAX9), Wnt family member 10A (WNT10A), msh homeobox 1 (MSX1), and axin 2 (AXIN2) -using direct Sanger sequencing of the exons and intron-exon boundaries. The most prevalent variants identified in PAX9 and AXIN2 genes were analyzed using the chi-square test. The sequencing results revealed a number of variants in the AXIN2 gene, including one novel missense mutation in one patient with agenesis of a single second premolar. We also identified one variant in the AXIN2 gene as being a putative risk factor for tooth agenesis. Only one missense mutation was identified in the WNT10A gene and this mutation was found in two patients. Interestingly, WNT10A is reported as the most prevalent gene mutated in the European population with NSTA.

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“…Most often reported genes associated with nonsyndromic tooth agenesis are PAX9, MSX1, EDA, and AXIN2 [19]. SNPs of these genes have an impact on agenesis patterns although in notably different ways.…”

Section: Discussionmentioning

confidence: 99%

Study of rs12532, rs8670 Polymorphism of Msh Homeobox 1 (MSX1), rs61754301, rs4904155 Polymorphism of Paired Box Gene 9 (PAX9), and rs2240308 Polymorphism of Axis Inhibitor Protein 2 (AXIN2) Genes in Nonsyndromic Hypodontia

Martha

Kerekes-Máthé

Moldovan

et al. 2019

BioMed Research International

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The etiology of hypodontia is complex, in which both genetic and environmental factors can be related. The main objective of our study was to contribute to elucidating the genetic background of nonsyndromic hypodontia (NSH). In this order, we selected 97 NSH subjects (70 females and 27 males) from patients referred to orthodontic treatment, and we matched to each NSH subject a control by age and sex. DNA was obtained from epithelial cells from the oral mucosa. Genotyping of the PAX9 (rs4904155 and rs61754301), MSX1 (rs8670 and rs12532), and AXIN2 (rs2240308) SNPs was performed by using TaqMan SNP Genotyping Assays on a real-time PCR system. Single-nucleotide polymorphisms (SNPs) were studied for the whole NSH group and for frontal and lateral agenesis NSH subjects separately. Our results showed that the variant genotype (p=0.0008, OR = 2.9, 95% CI = 1.58–5.3) and variant T allele (p=0.0002, OR = 2.65, 95% CI = 1.6–4.39) of the MSX1 rs8670 SNP increased the risk of hypodontia in the studied population when the whole NSH group was compared with controls. The variant genotype of the MSX1 rs8670 SNP was the most frequent in frontal agenesis; meanwhile in the lateral agenesis NSH group, the AXIN2 rs2240308 SNP showed a higher frequency of the variant genotype, with a trend towards statistical significance. In conclusion, the results of the present study showed that the variant genotype and variant T allele of the MSX1 rs8670 SNP increased the risk of hypodontia in the studied population. The presence of the variant A allele of AXIN2 rs2240308 is associated with frontal agenesis but not with lateral agenesis.

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Characterization of a novel mutation in PAX9 gene in a family with non-syndromic dental agenesis

Cited by 14 publications

References 43 publications

PAX9 gene mutations and tooth agenesis: A review

PAX9 gene mutations and tooth agenesis: A review

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

Study of rs12532, rs8670 Polymorphism of Msh Homeobox 1 (MSX1), rs61754301, rs4904155 Polymorphism of Paired Box Gene 9 (PAX9), and rs2240308 Polymorphism of Axis Inhibitor Protein 2 (AXIN2) Genes in Nonsyndromic Hypodontia

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