Abstract
Supernumerary teeth are teeth that are present in addition to normal teeth. Although several hypotheses and some molecular signalling pathways explain the formation of supernumerary teeth, but their exact disease pathogenesis is unknown. To study the molecular mechanisms of supernumerary tooth‐related syndrome (Gardner syndrome), a deeper understanding of the aetiology of supernumerary teeth and the associated syndrome is needed, with the goal of inhibiting disease inheritance via prenatal diagnosis. We recruited a Chinese family with Gardner syndrome. Haematoxylin and eosin staining of supernumerary teeth and colonic polyp lesion biopsies revealed that these patients exhibited significant pathological characteristics. APC gene mutations were detected by PCR and direct sequencing. We revealed the pathological pathway involved in human supernumerary tooth development and the mouse tooth germ development expression profile by RNA sequencing (RNA‐seq). Sequencing analysis revealed that an APC gene mutation in exon 15, namely 4292‐4293‐Del GA, caused Gardner syndrome in this family. This mutation not only initiated the various manifestations typical of Gardner syndrome but also resulted in odontoma and supernumerary teeth in this case. Furthermore, RNA‐seq analysis of human supernumerary teeth suggests that the APC gene is the key gene involved in the development of supernumerary teeth in humans. The mouse tooth germ development expression profile shows that the APC gene plays an important role in tooth germ development. We identified a new mutation in the APC gene that results in supernumerary teeth in association with Gardner syndrome. This information may shed light on the molecular pathogenesis of supernumerary teeth. Gene‐based diagnosis and gene therapy for supernumerary teeth may become available in the future, and our study provides a high‐resolution reference for treating other syndromes associated with supernumerary teeth.
Highlights
Supernumerary teeth are an odontostomatologic anomaly characterized by the existence of an excessive number of teeth in relation to the normal dental formula
The upper and lower jaws were subject to a cone-beam computed tomography examination (CBCT) scan
We found that when adenomatous polyposis coli (APC) has mutation, CTNNB1 (b-catenin) dependent classical Wnt signalling pathway anomaly, result in abnormal tooth germ development, thereby forming Odontoma, Supernumerary teeth (Fig. S1)
Summary
Supernumerary teeth are an odontostomatologic anomaly characterized by the existence of an excessive number of teeth in relation to the normal dental formula. The condition could be characterized as single or multiple and as unilateral or bilateral. The condition can occur in the upper or lower jaw [1]. Significant variations in tooth eruption site, direction and shape features are noted depending on the location, including increases in the number of middle supernumerary teeth, premolar teeth, molars and teeth distal to molars, as well as teeth conical in shape, nodular teeth, supplementary teeth (similar to normal tooth morphology) and dental tumours [2]. Supernumerary teeth can occur in the primary dentition and permanent dentition. The incidence of permanent dentition is 0.1–3.6% [3,4,5],
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