Abstract：
Gardner syndrome (GS) is a specific form of familial adenomatous polyposis (FAP), which manifests as colorectal polyps, multiple osteomas and soft tissue tumors, and in the oral cavity as osteomas of the jaws, odontomas, and abnormal tooth counts. The underlying cause of GS is attributed to mutations in the APC gene. Mutations in this gene disrupt the normal functioning of the protein and lead to the development of GS. To further investigate GS, a family affected by the syndrome was selected from Dongguan, Guangdong Province. The family members underwent a comprehensive survey, which involved collecting clinical data and peripheral venous blood samples. The samples were then used for genetic analysis. Whole exome sequencing (WES) and Sanger sequencing techniques were utilized to screen and identify specific mutation sites in the APC gene. The clinical findings for the GS family included the presence of gastrointestinal polyps and odontomas. After analyzing the genetic sequencing results, a novel mutation site c.4266dupA on the APC gene was found in the patients, which leading to the APC protein truncation. As a result of this study, it is suggested that odontoma may be an early indicator of GS. Additionally, the identification of this novel mutation site in the APC gene expands the known spectrum of genetic mutations associated with the disease. This discovery has significant implications for the early diagnosis of GS, thus enabling timely intervention to reduce the risk of developing colon cancer and other related diseases.
摘要：
加德纳综合征（GS）是家族性腺瘤性息肉病（FAP）的一种特殊形式，表现为大肠息肉，多发性骨瘤和软组织肿瘤，在口腔中作为颌骨的骨瘤，牙列切除术,和异常的牙齿计数。GS的根本原因归因于APC基因中的突变。该基因的突变会破坏蛋白质的正常功能并导致GS的发展。为了进一步调查GS，从东莞选择了一个受该综合征影响的家庭，广东省。家庭成员接受了全面调查,其中包括收集临床数据和外周静脉血样本。然后将样品用于遗传分析。利用全外显子组测序(WES)和Sanger测序技术来筛选和鉴定APC基因中的特定突变位点。GS家族的临床发现包括胃肠道息肉和牙瘤的存在。在分析基因测序结果后，在患者中发现了APC基因上的一个新的突变位点c.4266dupA，导致APC蛋白截短。作为这项研究的结果，建议牙瘤可能是GS的早期指标。此外,APC基因中这种新突变位点的鉴定扩展了与该疾病相关的已知基因突变谱.这一发现对GS的早期诊断具有重要意义。因此能够及时干预，以降低患结肠癌和其他相关疾病的风险。
