Whole exome sequencing and cluster analysis reveal that EPB41L4A mutation may trigger tooth agenesis

To detect and analyze the correlation between commonly mutated genes and known genes associated with tooth agenesis in patients with non-syndromic tooth agenesis. The aim is to explore new genes that may be associated with tooth agenesis, to provide a genetic reference for its prevention as well as for the clinical diagnosis and treatment of tooth agenesis.

Genomic DNA was extracted from the peripheral blood of 18 congenitally edentulous subjects, and related gene mutations were identified by whole-exome sequencing. The genes related to maxillofacial development and the known pathogenic gene sequences of congenital tooth agenesis were selected for local alignment analysis of pairwise sequences, and the metric relationship of related sequences was determined. Hierarchical and fuzzy clustering methods were used for cluster analysis.

Hierarchical clustering and fuzzy clusterings yielded consistent results. The EPB41L4A gene clustered with a large number of well-known and well-defined genes associated with tooth agenesis. From the perspective of cluster analysis, it can be inferred that the genes clustered together generally have similar functions.

EPB41L4A, which is involved in the Wnt pathway, may be a candidate gene warranting further investigation.