The goal of this work was to identify all known gene mutations that have been associated with the development of nonsyndromic oligodontia.
A systematic literature search was performed electronically in two databases (PubMed, Medpilot) supplemented by a hand search. Articles published up to March 2012 were considered. Search terms were combined as follows: oligodontia and genes, oligodontia and mutations, tooth agenesis and genes, and tooth agenesis and mutations. A meta-analysis of the data was conducted based on the Tooth Agenesis Code (TAC).
Seven genes are currently known to have a potential for causing nonsyndromic oligodontia. All these genes vary both in terms of number of identified mutations and in terms of number of documented patients: 33 mutations and 93 patients are on record for PAX9, 10 mutations and 51 patients for EDA, 12 mutations and 33 patients for MSX1, 6 mutations and 17 patients for AXIN2, and 1 mutation in 1 patient for EDARADD, NEMO, and KRT17 each. A total TAC score of 250 was found to have cutoff properties, as 100% of MSX1 and 80% of EDA patients exhibited TAC ≤250, whereas 96.9% of PAX9 and 90% of AXIN2 patients exhibited TAC >250. Furthermore, 94.3% of EDA patients but only 28.6% of MSX1 patients exhibited odd-numbered TAC scores in at least one quadrant, and 72.7% of PAX9 but none of the AXIN2 patients were found to show TAC scores of 112 in at least one quadrant.
In order of decreasing frequency, PAX9, EDA, MSX1, AXIN2, EDARADD, NEMO, and KRT17 are the seven genes currently known to have a potential for causing nonsyndromic oligodontia. TAC scores enabled us to identify an association between oligodontia phenotypes and genotypes in the patients covered by this meta-analysis.
[Show abstract][Hide abstract] ABSTRACT: Oligodontia, which is the congenital absence of six or more permanent teeth excluding third molars, may contribute to masticatory dysfunction, speech alteration, aesthetic problems and malocclusion. To date, mutations in EDA, AXIN2, MSX1, PAX9, WNT10A, EDAR, EDARADD, NEMO and KRT 17 are known to associate with non-syndromic oligodontia. The aim of the study was to search for AXIN2 mutations in 96 patients with non-syndromic oligodontia.
We performed mutation analysis of 10 exons of the AXIN2 gene in 96 patients with isolated non-syndromic oligodontia.
We identified two novel missense mutations (Exon 3 c.923C>T and Exon 11 c.2490G>C) in two patients. One mutation (c.923C>T) results in a Thr308Met substitution and the other mutation (c.2490G>C) results in a Met830Ile substitution.
This is the first report indicating that mutations in AXIN2 are responsible for oligodontia in the Chinese population. Our findings indicate that AXIN2 can be regarded as a candidate gene for mutation detection in individuals with non-syndromic oligodontia in the Chinese population.
[Show abstract][Hide abstract] ABSTRACT: Background
Initial rehabilitation in juvenile patients with oligodontia is a major challenge for the dentist. Conventional permanent prosthetic and/or implantological treatment options alongside permanent natural teeth are contraindicated in growing patients, because their skeletal development is still in progress.Case ReportA non-invasive temporary-fixed treatment option for an adolescent patient is presented by the use of adhesively cemented (non-prep) all-ceramic onlays of primary teeth. The outcome of treatment was monitored over a period of 4 years.Conclusion
Long-term preservation of persistent primary teeth may be a meaningful alternative to removable dentures in growing patients with oligodontia. Intermediate rehabilitation should cause no more than mild psychological stress for the patient and improve quality of life, especially when extensive orthodontic and/or implantological treatment is planned at the end of the patient's skeletal growth.
International Journal of Paediatric Dentistry 08/2014; DOI:10.1111/ipd.12130 · 1.34 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Oligodontia has a substantial oral functional and psychosocial impact on the quality of life of children. The treatment of oligodontia in adolescence is an interdisciplinary approach which can include extraction of the primary teeth with orthodontic space closure, or prosthodontic rehabilitation. This case report describes a conservative approach for the rehabilitation of a 12-year-old patient with 19 ageneses (excluding third molars) of permanent teeth, infraocclusion of the persisting primary teeth, deep overbite, and reduced mesiodistal dimension of the maxillary incisors with a central diastema. The treatment plan to restore esthetics and function included an initial noninvasive prosthetic rehabilitation for deep bite correction with additive leucite-reinforced glass-ceramic onlays/veneers until definitive orthodontic and implant therapy are reevaluated and determined in adulthood. Esthetics, functional occlusion, and crown-to-root ratio remained stable over a follow-up period of 3 years. No signs of fractures within the all-ceramic restorations or symptoms of a temporomandibular disorder were evident.
Data provided are for informational purposes only. Although carefully collected, accuracy cannot be guaranteed. The impact factor represents a rough estimation of the journal's impact factor and does not reflect the actual current impact factor. Publisher conditions are provided by RoMEO. Differing provisions from the publisher's actual policy or licence agreement may be applicable.