Whole exome sequencing and cluster analysis reveal that EPB41L4A mutation may trigger tooth agenesis
- 1Beijing Shunyi Hospital, Beijing, China
- 2School and Hospital of Stomatology, Tianjin Medical University, Tianjin, China
Abstract
Objective: 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. Methods: 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. Results: 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. Conclusion: EPB41L4A, which is involved in the Wnt pathway, may be a candidate gene warranting further investigation.
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BibTeX
@article{li2026whole,
title = {{Whole exome sequencing and cluster analysis reveal that EPB41L4A mutation may trigger tooth agenesis}},
author = {Tian-Qi Li and Qin Zhang and Hui-Juan Wang and Zhao-Feng Ma and Bing-Yu Lu and Ke-Gui Hou and Xiang-Yu Zhang},
journal = {PLOS One},
year = {2026},
month = sep,
doi = {10.1371/journal.pone.0357667},
url = {https://doi.org/10.1371/journal.pone.0357667},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Whole exome sequencing and cluster analysis reveal that EPB41L4A mutation may trigger tooth agenesis
AU - Tian-Qi Li
AU - Qin Zhang
AU - Hui-Juan Wang
AU - Zhao-Feng Ma
AU - Bing-Yu Lu
AU - Ke-Gui Hou
AU - Xiang-Yu Zhang
PY - 2026
DA - 2026/09/09
JO - PLOS One
DO - 10.1371/journal.pone.0357667
UR - https://doi.org/10.1371/journal.pone.0357667
AB - Objective: 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. Methods: 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. Results: 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. Conclusion: EPB41L4A, which is involved in the Wnt pathway, may be a candidate gene warranting further investigation.
SN - 1932-6203
ER -