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Abstract：
BACKGROUND: WNT signaling is pivotal in embryogenesis and tissue homeostasis. Aberrant WNT signaling, due to mutations in components of this pathway, contributes to the development and progression of human cancers, including colorectal cancer. AXIN2, encoded by the AXIN2 gene, is a key negative regulator and target of the canonical WNT signaling pathway. Germline mutations in AXIN2 are associated with absence of permanent teeth (hypo- and oligodontia) and predisposition to gastrointestinal polyps and cancer. The limited number of patients makes an accurate genotype-phenotype analysis currently challenging.
METHODS: We present the case of a 55-year-old male with colorectal polyposis and hypodontia. Genetic testing confirmed a novel frameshift germline mutation in exon 8 of the AXIN2 gene. In addition, we provide an updated overview of germline AXIN2 mutations reported in literature.
CONCLUSIONS: Although the number of missing teeth is less severe in our patient than in some previously reported cases, our findings provide additional evidence that missing teeth and gastrointestinal neoplasia are associated with rare pathogenic AXIN2 germline mutations.
METHODS: We present the case of a 55-year-old male with colorectal polyposis and hypodontia. Genetic testing confirmed a novel frameshift germline mutation in exon 8 of the AXIN2 gene. In addition, we provide an updated overview of germline AXIN2 mutations reported in literature.
CONCLUSIONS: Although the number of missing teeth is less severe in our patient than in some previously reported cases, our findings provide additional evidence that missing teeth and gastrointestinal neoplasia are associated with rare pathogenic AXIN2 germline mutations.
摘要：
背景：WNT信号在胚胎发生和组织稳态中起关键作用。WNT信令异常，由于该途径的组成部分发生了突变，有助于人类癌症的发展和进展，包括结直肠癌.AXIN2，由AXIN2基因编码，是经典WNT信号通路的关键负调节因子和靶点。AXIN2中的种系突变与恒牙缺失（少牙和少牙）以及胃肠道息肉和癌症的易感性有关。有限的患者数量使得准确的基因型-表型分析目前具有挑战性。
方法：我们介绍了一例55岁男性，患有结肠直肠息肉病和牙体发育不全。遗传测试证实了AXIN2基因外显子8中的新型移码种系突变。此外,我们提供了文献中报道的种系AXIN2突变的最新概述.
结论：尽管我们患者的牙齿缺失数量没有以前报道的一些病例严重，我们的研究结果提供了额外的证据,表明牙齿缺失和胃肠道肿瘤与罕见的致病性AXIN2种系突变相关.
方法：我们介绍了一例55岁男性，患有结肠直肠息肉病和牙体发育不全。遗传测试证实了AXIN2基因外显子8中的新型移码种系突变。此外,我们提供了文献中报道的种系AXIN2突变的最新概述.
结论：尽管我们患者的牙齿缺失数量没有以前报道的一些病例严重，我们的研究结果提供了额外的证据,表明牙齿缺失和胃肠道肿瘤与罕见的致病性AXIN2种系突变相关.
