The Variation of DLL3 and LFNG in Class III skeletal malocclusion with mandible prognathia

Introduction Malocclusion is defined as a dentition disorder or an improper relationship between the maxillary and mandibular arches, and is one of the most common craniofacial developmental anomalies experienced by humans of various races and ethnicities. The prevalence of malocclusion in Indonesia reaches more than 80% with class III malocclusion reaching 15% in the Asian population. 

Aim To define the genetic pathway and the role of DLL3 and LFNG in skeletal class III malocclusion with mandibular prognathism.

Material and Method A quantitative observational study was conducted with a total of 64 samples, divided into a control group, namely class I malocclusion and class III malocclusion group. Through strict inclusion and exclusion criteria, one sample was selected from each group for further analysis using the whole genome sequencing method to obtain SNPs in the DLL3 and LFNG genes. 

Results There were 4 DLL3 mutations (rs8107127, rs8106337, rs1110627, and rs2304214) and 2 LFNG mutations (rs61564232 and rs34637446). DLL3 mutations are exonic synonymous and exonic missence. LFNG mutations are frameshift deletion and frameshift insertion. 

Conclusions The presence of DLL3 and LFNG mutations may play an important role in the process of mandibular bone formation through inhibition of NOTCH signaling and through interference with cyclical effects.