Grenga Camilla, Guarnieri Rosanna, Mezio Martina, De Stefano Adriana Assunta, Galluccio Gabriella, Di Giorgio Roberto, Giovannetti Agnese, Pizzuti Antonio, Caputo Viviana, Barbato Ersilia
Department of Oral and Maxillofacial Sciences, School of Dentistry "Sapienza" University of Rome Rome Italy.
Clinical Genomics Laboratory Fondazione IRCCS Casa Sollievo Della Sofferenza, S. Giovanni Rotondo (FG) San Giovanni Rotondo Italy.
Clin Case Rep. 2025 Apr 7;13(4):e70137. doi: 10.1002/ccr3.70137. eCollection 2025 Apr.
Craniofacial and dentofacial anomalies often result from disruptions in embryogenetic processes driven by genetic alterations. Dental development involves complex interactions between coding and non-coding genes, orchestrated by a network of signaling pathways. Next Generation Sequencing (NGS) has identified genes, particularly in the WNT signaling pathway, associated with dental anomalies. MicroRNAs (miRNAs), small non-coding RNA molecules, play a crucial role in post-transcriptional regulation. Variants in miRNAs, such as in MIR146A, have been linked to various craniofacial pathologies. A 10-year-old female with a class II molar malocclusion and maxillary constriction was examined. Clinical and radiographic assessments revealed impacted cuspids (both maxillary canines and the right mandibular canine), odontoma, and root resorption. Genetic analysis showed that the patient carried two variants in MIR146A (rs2910164) and MIR182 (rs76481776). The patient exhibited skeletal anomalies including class II ponticulus posticus and sella turcica bridging. The proof-of-concept study incorporates relevant literature discussing the molecular basis of dental anomalies, suggesting to take into account the potential functional role of miRNAs. Previous research has associated MIR146A polymorphisms with various diseases, highlighting the need for a comprehensive understanding of genetic influences on craniofacial development. This case report presents craniofacial and dental anomalies in a patient carrying two miRNA variants. Understanding the genetic basis of dental anomalies, particularly the role of miRNAs, holds promise for future advancements in orthodontics, enabling personalized diagnostics and prognostics.
颅面和牙颌面异常通常是由基因改变驱动的胚胎发生过程中断所致。牙齿发育涉及编码基因和非编码基因之间复杂的相互作用，这些相互作用由信号通路网络协调。新一代测序（NGS）已鉴定出与牙齿异常相关的基因，特别是在WNT信号通路中的基因。微小RNA（miRNA）是小的非编码RNA分子，在转录后调控中起关键作用。miRNA的变异，如MIR146A中的变异，已与各种颅面病理状况相关联。对一名患有II类磨牙错颌畸形和上颌狭窄的10岁女性进行了检查。临床和影像学评估发现有埋伏尖牙（双侧上颌尖牙和右侧下颌尖牙）、牙瘤和牙根吸收。基因分析表明，该患者在MIR146A（rs2910164）和MIR182（rs76481776）中携带两个变异。该患者表现出骨骼异常，包括II类后小桥和蝶鞍桥接。这项概念验证研究纳入了讨论牙齿异常分子基础的相关文献，建议考虑miRNA的潜在功能作用。先前的研究已将MIR146A多态性与各种疾病相关联，凸显了全面了解基因对颅面发育影响的必要性。本病例报告展示了一名携带两个miRNA变异患者的颅面和牙齿异常情况。了解牙齿异常的遗传基础，特别是miRNA的作用，有望为正畸学的未来发展带来进步，实现个性化诊断和预后评估。
