Tooth agenesis patterns and variants in PAX9: A systematic review

Intarak, Narin; Tongchairati, Karn; Termteerapornpimol, Kittipat; Chantarangsu, Soranun; Porntaveetus, Thantrira

doi:10.1016/j.jdsr.2023.04.001

Cited by 11 publications

(4 citation statements)

References 33 publications

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“…More than 80% of maxillary and mandibular second and third molars are missing in most cases. The first molars are also frequently missing, especially in the maxilla (69~79%) compared to the mandible (32~44%) [5,[11][12][13][14].…”

Section: Discussionmentioning

confidence: 99%

Novel PAX9 Mutations Causing Isolated Oligodontia

Lee,

Kim

et al. 2024

JPM

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Hypodontia, i.e., missing one or more teeth, is a relatively common human disease; however, oligodontia, i.e., missing six or more teeth, excluding the third molars, is a rare congenital disorder. Many genes have been shown to cause oligodontia in non-syndromic or syndromic conditions. In this study, we identified two novel PAX9 mutations in two non-syndromic oligodontia families. A mutational analysis identified a silent mutation (NM_006194.4: c.771G>A, p.(Gln257=)) in family 1 and a frameshift mutation caused by a single nucleotide duplication (c.637dup, p.(Asp213Glyfs*104)) in family 2. A minigene splicing assay revealed that the silent mutation resulted in aberrant pre-mRNA splicing instead of normal splicing. The altered splicing products are ones with an exon 4 deletion or using a cryptic 5’ splicing site in exon 4. Mutational effects were further investigated using protein expression, luciferase activity assay and immunolocalization. We believe this study will not only expand the mutational spectrum of PAX9 mutations in oligodontia but also strengthen the diagnostic power related to the identified silent mutation.

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Section: Discussionmentioning

confidence: 99%

Novel PAX9 Mutations Causing Isolated Oligodontia

Lee,

Kim

et al. 2024

JPM

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“…The etiology of non-syndromic oligodontia is multifactorial and includes genetic factors. There are many well-known mutations of causative genes for non-syndromic oligodontia involving craniofacial bone and tooth development, including wingless-type MMTV integration site family, member 10A ( WNT10A ) 11 , wingless-type MMTV integration site family, member 10B ( WNT10B ) 12 , low-density lipoprotein receptor-related protein 6 ( LRP6 ) 13 , ectodysplasin A ( EDA ) 14 , ectodysplasin 1 ( ED1 ) 15 , muscle segment homeo-box 1 ( MSX1 ) 16 , paired box gene 9 ( PAX9 ) 17 , AXIN2 18 , and LTBP3 19 , 20 .…”

Section: Introduction and Importancementioning

confidence: 99%

Bimaxillary fixed implant-supported zirconium oxide prosthesis therapy of an adolescent patient with non-syndromic oligodontia and two WNT10 variants: case report

Grün,

Pfaffeneder-Mantai,

Leunig

et al. 2024

Annals of Medicine &Amp; Surgery

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Introduction and importance: Oligodontia is a rare genetic condition characterised by more than six congenitally missing teeth, either as an isolated non-syndromic condition or in association with other genetic syndromes. The impact of WNT10A variants on dental development increases with the presence of the c.321C>A variant and the number of missing teeth. Case presentation: A 21-year-old man with non-syndromic oligodontia was diagnosed at 15 years of age with misaligned teeth, speech problems, and the absence of 24 permanent teeth. Interdisciplinary collaboration between specialists was initiated to enable comprehensive treatment. DNA analysis confirmed that the patient was a carrier of the known pathogenic WNT10A variant c321C>A and WNT10A variant c.113G>T of unknown clinical significance. Clinical discussion: Dental implants are a common treatment; however, bone development challenges in adolescent patients with non-syndromic oligodontia necessitate careful planning to ensure implant success. Many WNT variants play crucial roles in tooth development and are directly involved in non-syndromic oligodontia, especially the WNT10 variant c.321C>A. Conclusion: A full-arch implant-supported monolithic zirconia screw-retained fixed prosthesis is a viable treatment option for young adults with non-syndromic oligodontia. Further studies are needed to clarify the possible amplifying effect of the WNT10A variants c321C>A and c.113G>T on the pathogenic phenotype of non-syndromic oligodontia.

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“…[ 8 ] Tooth agenesis occurs as an isolated disease or related to syndromes. [ 7 9 ] Factors contributing to tooth agenesis can be either congenital, such as metabolic, inheritance, and gene mutations, or environmental, factors which include biological, chemical, and physical factors. In addition, a combination of genetic and environmental factors can cause some of these anomalies.…”

Section: Introductionmentioning

confidence: 99%

Mandibular Second Premolar Agenesis: A Retrospective Cross-sectional Study from Palestine

Arandi,

Rabi

2024

Journal of Pharmacy and Bioallied Sciences

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Objectives: This retrospective study aimed to determine the prevalence of congenitally missing mandibular second premolars. Materials and Methods: A total of 1,843 radiographs were collected from five different cities in Palestine. Two experienced dentists independently examined the panoramic radiographs and demographic data (age and gender). Results: Among the 1,843 radiographs, 1,039 were for females (57.37%) and 804 were for males (43.63%); 13 cases had at least one congenitally mandibular second premolar. The prevalence of congenitally missing mandibular second premolars in the study population was 0.7%. There was no significant association between gender and mandibular second premolar agenesis. Unilateral agenesis was more common than bilateral, and the left side had more cases of congenitally missing mandibular second premolars than the right side. Conclusions: The prevalence of congenitally missing mandibular second premolars in this study population was 0.7%, within the range reported in other populations.

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Tooth agenesis patterns and variants in PAX9: A systematic review

Cited by 11 publications

References 33 publications

Novel PAX9 Mutations Causing Isolated Oligodontia

Novel PAX9 Mutations Causing Isolated Oligodontia

Bimaxillary fixed implant-supported zirconium oxide prosthesis therapy of an adolescent patient with non-syndromic oligodontia and two WNT10 variants: case report

Mandibular Second Premolar Agenesis: A Retrospective Cross-sectional Study from Palestine

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