Genotyping analysis of the Pax9 Gene in patients with maxillary canine impaction

Vitria, Evy Eida; Tofani, Iwan; Kusdhany, Lindawati S.; Bachtiar, Endang W.

doi:10.12688/f1000research.17147.1

Cited by 10 publications

(6 citation statements)

References 22 publications

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“…Additional mutations include c.146delC, c.218dupG, c.256_262dup, c.76C>T, and C.140G>C, among others (8). In the present study, we found rs12881240 (26,27) (exon 3, probands 1 and 5) and rs4904210 (27,28) (exon 3, probands 1.1 and 5) that have previously been reported to be associated with NSDA. In Mexican families, rs12881240 and rs4904210, both in exon 3, have been reported; they impact protein and messenger RNA (mRNA) structures (13).…”

Section: Discussionsupporting

confidence: 72%

Genetic Variants of MSX1, PAX9, and AXIN2 in Mayan Probands with Dental Agenesis from Yucatan, Mexico

González-Pérez,

Herrera-Atoche,

López-González

et al. 2024

Odovtos - Int J Dent Sc

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The present study aimed to determine the genetic variants of PAX9, MSX1, and AXIN2 in Mayan probands with non-syndromic dental agenesis (NSDA) from Yucatan, Mexico. We sequenced DNA of specific exons of the PAX9, MSX1, and AXIN2 genes by using the Sanger method in seven Mayan probands with familial NSDA attending orthodontic clinics in Merida, Yucatan, Mexico. We bioinformatically analyzed four genomes of unaffected people with Mayan ancestry for comparative purposes. Two Mayan probands had oligodontia (14 or 16 missing teeth) and five had hypodontia (1-2 missing teeth). We found the following genetic variants: rs8670 in MSX1; rs12881240 and rs4904210 in PAX9; and rs1060502133, rs1060502139, rs147716924, rs1330822418, rs769741903, rs9915936, rs1133683, and rs1234437759 in AXIN2. The genetic variants in PAX9, MSX1, and AXIN2 in Mayan probands with familial NSDA were benign and have previously been reported. In conclusion, the AXIN2 gene exhibited the highest number of known variants. Because some variants were also present in the genomes of unaffected people, additional functional and epidemiological studies are required to address their clinical significance and associated phenotypes.

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Section: Discussionsupporting

confidence: 72%

Genetic Variants of MSX1, PAX9, and AXIN2 in Mayan Probands with Dental Agenesis from Yucatan, Mexico

González-Pérez,

Herrera-Atoche,

López-González

et al. 2024

Odovtos - Int J Dent Sc

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“…Therefore, a thorough survey of the factors involved in their development is of major importance. Specific genetic factors have been reported to be responsible for the development of dental anomalies in each jaw [ 2 , 3 ]. In addition, disturbances created during tooth development may produce variations in the number of teeth (agenesis/supernumerary teeth) [ 4 ], their size and shape, and tooth bud position, which can affect both permanent and deciduous dentition of both jaws [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

Dental Anomalies’ Characteristics

et al. 2021

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The aim of this study was to characterize dental anomalies. The pretreatment records (photographs and radiographs) of 2897 patients (41.4% males and 58.6% females) were utilized to detect dental anomalies. The dental anomalies studied were related to number, size and shape, position, and eruption. A Chi-square test was carried out to detect associations between dental anomalies, jaw, and sex. A total of 1041 (36%) of the subjects manifested at least one dental anomaly. The prevalence of all dental anomalies was jaw-dependent and greater in the maxilla, except for submerged and transmigrated teeth. The most frequently missing teeth were the maxillary lateral incisor (62.3%) and the mandibular second premolars (60.6%). The most frequent supernumerary teeth were the incisors in the maxilla (97%) and the first premolars in the mandible (43%). Dental anomalies are more frequent in the maxilla and mainly involve the anterior teeth; in the mandible, however, it is the posterior teeth. These differences can be attributed to the evolutionary history of the jaws and their diverse development patterns.

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“…The PDC seems to be an anomaly in development with genetic causes but precise etiology is not known up to date [ 60 – 63 ]. In the literature, Pax9 polymorphism is the most often mentioned as a responsible factor for palatal impaction of upper canines [ 64 – 71 ]. Devi et al [ 68 ], in particular, aimed to evaluate the association between PAX9 polymorphisms and palatally impacted canines.…”

Section: Discussionmentioning

confidence: 99%

“Examining the link between tooth agenesis and papillary thyroid cancer: is there a risk factor?” Observational study

Matošić,

Šimunović,

Jukić

et al. 2024

Prog Orthod.

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Background Mutations in one or multiple genes can lead to hypodontia and its characteristic features. Numerous studies have shown a strong genetic influence on the occurrence of hypodontia, and identified several genes, including AXIN2, EDA, FGF3, FGFR2, FGFR10, WNT10A, MSX1, and PAX9, that are directly associated with dental agenesis and carcinogenesis. The objective of this study was to investigate the occurrence and pattern of tooth agenesis, microdontia, and palatally displaced canine (PDC) in women diagnosed with papillary thyroid cancer (PTC), compared to a control group of women without any malignancy or thyroid disease. Materials and methods This case–control study was carried at the Department of Orthodontics, School of Dental Medicine University of Zagreb, and Department of Oncology and Nuclear Medicine Sestre Milosrdnice University Hospital Centre. The study involved a clinical examination and evaluation of dental status, panoramic X-ray analysis, and assessment of medical and family history of 116 female patients aged 20–40 with PTC, as well as 424 females in the control group who were of similar age. Results The prevalence of hypodontia, microdontia, and PDC was statistically higher in women with PTC than in the control group. The prevalence rate of hypodontia was 11.3% in the experimental group and 3.5% in the control group. The experimental group showed a higher occurrence of missing upper lateral incisors, lower left central incisors, and all the third molars (except the upper left) compared to the control group. Women with PTC showed the prevalence of PDC significantly higher than the control group (3.5%, 0.7%, p = 0.002). The probability of hypodontia as a clinical finding increases 2.6 times, and microdontia occurs 7.7 times more frequently in women with PTC. Conclusion Our study suggests a possible link between odontogenesis and PTC. The absence of permanent teeth may increase the likelihood of PTC in women. Leveraging the age-7 orthopantomogram to identify women at high risk for PTC within a critical early detection window could significantly improve oral health outcomes and PTC prognosis through proactive interventions.

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Genotyping analysis of the Pax9 Gene in patients with maxillary canine impaction

Cited by 10 publications

References 22 publications

Genetic Variants of MSX1, PAX9, and AXIN2 in Mayan Probands with Dental Agenesis from Yucatan, Mexico

Genetic Variants of MSX1, PAX9, and AXIN2 in Mayan Probands with Dental Agenesis from Yucatan, Mexico

Dental Anomalies’ Characteristics

“Examining the link between tooth agenesis and papillary thyroid cancer: is there a risk factor?” Observational study

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