PAX-9 polymorphism may be a risk factor for hypodontia: a meta-analysis

Zhang, W; Qu, Hongchen; Zhang, Y

doi:10.4238/2014.november.28.4

Cited by 13 publications

(11 citation statements)

References 29 publications

(27 reference statements)

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“…Severe tooth agenesis (absence of 4 or more teeth excluding the third molars) has an estimated prevalence of 0.25% in the general population [4] . However, hypodontia is identified as the most common dental anomaly in humans and affects almost 20% of the current population [10] , [13] . As reported by Nik Hussein, hypodontia is the most common tooth anomaly in Malaysia with a prevalence of 2.8%; meanwhile the updated prevalence (including the third molar) is 3.2% [14] , [15] , however there are no published reports on the prevalence of oligodontia and anodontia in Malaysia.…”

Section: Prevalence Distribution and Pattern Of Tooth Agenesismentioning

confidence: 99%

A review on non-syndromic tooth agenesis associated with PAX9 mutations

Fauzi

Ardini

Zainuddin

et al. 2018

Japanese Dental Science Review

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SummaryTooth agenesis in the reduction of tooth number which includes hypodontia, oligodontia and anodontia is caused by disturbances and gene mutations that occur during odontogenesis. To date, several genetic mutations that unlock the causes of non-syndromic tooth agenesis are being discovered; these have been associated with certain illnesses because tooth development involves the interaction of several genes for tooth epithelium and mesenchyme odontogenesis. Mutation of candidate genes PAX9 and MSX1 have been identified as the main causes of hypodontia and oligodontia; meanwhile, AXIN2 mutation is associated with anodontia. Previous study using animal models reported that PAX9-deficient knockout mice exhibit missing molars due to an arrest of tooth development at the bud stage. PAX9 frameshift, missense and nonsense mutations are reported to be responsible; however, the most severe condition showed by the phenotype is caused by haploinsufficiency. This suggests that PAX9 is dosage-sensitive. Understanding the mechanism of genetic mutations will benefit clinicians and human geneticists in future alternative treatment investigations.

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Section: Prevalence Distribution and Pattern Of Tooth Agenesismentioning

confidence: 99%

A review on non-syndromic tooth agenesis associated with PAX9 mutations

Fauzi

Ardini

Zainuddin

et al. 2018

Japanese Dental Science Review

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“…Zhang et al performed meta‐analysis of the data chosen from 4 previous studies related to the rs4904210 polymorphism; Pinho et al, Paixão‐Côrtes et al, Liu et al and Wang et al Their results showed no significant association between hypodontia and the g.13981G>C polymorphism (rs4904210).…”

Section: Mutations and Polymorphisms In The Pax9 Genementioning

confidence: 99%

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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“…The homozygous trait of the variant could explain the reason for microdontia in patient II: 1. Zhang et al 27 performed a meta-analysis to examine the correlation between hypodontia and PAX9 polymorphisms and concluded that rs4904210 has no significant association with hypodontia. Wang et al 28 raised the possibility that structural and functional changes of protein as a result of rs4904210 variant is a risk factor for oligodontia patients in the Chinese population.…”

Section: Discussionmentioning

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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PAX-9 polymorphism may be a risk factor for hypodontia: a meta-analysis

Cited by 13 publications

References 29 publications

A review on non-syndromic tooth agenesis associated with PAX9 mutations

A review on non-syndromic tooth agenesis associated with PAX9 mutations

PAX9 gene mutations and tooth agenesis: A review

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

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