AI Article Synopsis
- Wnt/β-catenin signaling is essential for tooth development, and APC plays a key role in regulating this pathway to ensure normal tooth number and arrangement.
- * Loss of APC function leads to increased Wnt/β-catenin signaling, which is linked to conditions like familial adenomatous polyposis and can result in extra teeth.
- * This study examined 120 Thai patients with extra teeth, uncovering rare genetic variants in the APC gene that may be associated with the presence of supernumerary teeth.*
Article Abstract
The activation of Wnt/β-catenin signalling is a prerequisite for odontogenesis. APC, a member of the AXIN-CK1-GSK3β-APC β-catenin destruction complex, functions to modulate Wnt/β-catenin signalling to establish regular teeth number and positions. APC loss-of-function mutations are associated with the over-activation of WNT/β-catenin signalling and subsequent familial adenomatous polyposis (FAP; MIM 175100) with or without multiple supernumerary teeth. The ablation of Apc function in mice also results in the constitutive activation of β-catenin in embryonic mouse epithelium and causes supernumerary tooth formation. The objective of this study was to investigate if genetic variants in the gene were associated with supernumerary tooth phenotypes. We clinically, radiographically, and molecularly investigated 120 Thai patients with mesiodentes or isolated supernumerary teeth. Whole exome and Sanger sequencing identified three extremely rare heterozygous variants (c.3374T>C, p.Val1125Ala; c.6127A>G, p.Ile2043Val; and c.8383G>A, p.Ala2795Thr) in in four patients with mesiodentes or a supernumerary premolar. An additional patient with mesiodens was compound as heterozygous for two variants (c.2740T>G, p.Cys914Gly, and c.5722A>T, p.Asn1908Tyr). Rare variants in in our patients are likely to contribute to isolated supernumerary dental phenotypes including isolated mesiodens and an isolated supernumerary tooth.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10002335 | PMC |
| http://dx.doi.org/10.3390/ijms24054255 | DOI Listing |
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