Chen Xiaoling, Xiang Yan, Yang Lvli, Lin Yao
Department of Endodontics I, Stomatological Hospital of Xiamen Medical College, Xiamen, China.
Xiamen Key Laboratory of Stomatological Disease Diagnosis and Treatment, Xiamen, China.
Ann Transl Med. 2021 Oct;9(20):1583. doi: 10.21037/atm-21-5159.
Although athelia, which is a congenital aplastic deformity of the nipple, is seldom reported in tooth agenesis patients, we observed athelia in 2 hypodontia patients. This study aimed to summarize the phenotypic characteristics of patients with athelia and tooth agenesis.
A database search was conducted for publications reporting on patients with athelia and tooth agenesis, and the phenotypes of such patients were recorded. Athelia-related syndromes were identified in the Online Mendelian Inheritance in Man (OMIM) database. The common symptoms and the causative genes were documented. Potential interactions between athelia-related genes and tooth agenesis-related genes were analyzed in the Database for Annotation, Visualization, and Integrated Discovery (DAVID) Bioinformatics Resources and the Search Tool for the Retrieval of Interacting Genes/Proteins (STRING) database.
We summarized the phenotypic characteristics of 8 previously reported patients. Deformities in hair, skin, and sweat glands were common in these patients. There were 23 nipple deformity-related syndromes reported. The most common symptoms included abnormalities of the head and neck, cardiovascular, genitourinary, and skeletal systems, and the skin, nails, and hair. Hypodontia was noted in association with 10 syndromes. A total of 16 genes were related to them, including , , and . The interaction found in the study suggests that nipple deformity-related genes potentially interact with tooth agenesis-related genes.
These results indicated that athelia might be related to hypodontia. Additional molecular genetics research is needed to fully elucidate the underlying relationship between athelia and tooth agenesis.
乳头先天性发育不全畸形（乳头缺如）虽在牙齿发育不全患者中鲜有报道，但我们在2例牙列缺损患者中观察到了乳头缺如。本研究旨在总结乳头缺如合并牙齿发育不全患者的表型特征。
通过数据库检索有关乳头缺如合并牙齿发育不全患者的文献，并记录这些患者的表型。在《人类孟德尔遗传在线》（OMIM）数据库中识别与乳头缺如相关的综合征。记录常见症状和致病基因。在注释、可视化与整合发现数据库（DAVID）生物信息学资源以及检索相互作用基因/蛋白质的搜索工具（STRING）数据库中分析乳头缺如相关基因与牙齿发育不全相关基因之间的潜在相互作用。
我们总结了8例先前报道患者的表型特征。这些患者常见毛发、皮肤和汗腺畸形。共报道了23种与乳头畸形相关的综合征。最常见的症状包括头颈部、心血管、泌尿生殖系统、骨骼系统以及皮肤、指甲和毛发的异常。牙列缺损与10种综合征相关。共有16个基因与之相关，包括……（此处原文基因名称缺失）。研究中发现的相互作用表明，乳头畸形相关基因可能与牙齿发育不全相关基因相互作用。
这些结果表明乳头缺如可能与牙列缺损有关。需要进一步开展分子遗传学研究以充分阐明乳头缺如与牙齿发育不全之间的潜在关系。
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