# Craniofacial and Dental Anomalies of a Patient Carrying Two MicroRNA Variants: A Proof‐Of‐Concept Case Report

## TL;DR

A 10-year-old girl with dental and craniofacial anomalies was found to have two microRNA gene variants, suggesting a genetic link to these developmental issues.

## Contribution

This case report is the first to link two specific microRNA variants to craniofacial and dental anomalies in a clinical setting.

## Key findings

- The patient had impacted cuspids, odontoma, and root resorption associated with MIR146A and MIR182 variants.
- Skeletal anomalies like class II ponticulus posticus and sella turcica bridging were observed.
- The findings suggest a potential functional role of miRNAs in craniofacial development.

## Abstract

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.