Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7624 Pécs, Hungary.
Department of Dentistry, Oral and Maxillofacial Surgery, Clinical Center, Medical School, University of Pécs, 7623 Pécs, Hungary.
Int J Mol Sci. 2024 Jul 26;25(15):8189. doi: 10.3390/ijms25158189.
is a tumor suppressor gene that exerts its effect through the regulation of the Wnt signaling pathway. Loss of function mutations of the gene are associated with familial adenomatous polyposis (FAP). Early diagnosis in FAP patients is essential to prevent the development of colorectal cancer. Extraintestinal manifestations often precede the formation of the polyposis; therefore, these manifestations may serve as a clinical indicator for the condition. The aim of this study was to assess genotype-phenotype associations between the location of mutations and various extraintestinal features, mainly focusing on osseous and dental anomalies. Analyses of our cases and the mutations available in the literature with these manifestations revealed that mutations in the N-terminal region (amino acids 1-1000) of the protein are more frequently associated with only osseous anomalies, whereas dental manifestations are more prevalent in mutations in the middle region (amino acids 1000-2100). In addition, supernumerary teeth were found to be the most common dental feature. Since dental abnormalities often precede intestinal polyposis, dentists have a crucial role in the early identification of patients at risk.
APC 是一种肿瘤抑制基因，通过调节 Wnt 信号通路发挥作用。该基因的功能丧失突变与家族性腺瘤性息肉病（FAP）有关。在 FAP 患者中进行早期诊断对于预防结直肠癌的发生至关重要。肠外表现通常先于息肉形成；因此，这些表现可能是该疾病的临床指标。本研究旨在评估 APC 基因突变的位置与各种肠外特征之间的基因型-表型关联，主要集中在骨骼和牙齿异常上。对我们的病例和文献中具有这些表现的突变进行分析表明，位于蛋白 N 端区域（氨基酸 1-1000）的突变与仅骨骼异常更为相关，而在中间区域（氨基酸 1000-2100）的突变中则更常见牙齿异常。此外，多生牙是最常见的牙齿特征。由于牙齿异常通常先于肠道息肉形成，因此牙医在早期识别高危患者方面发挥着至关重要的作用。
