A Novel Genetic Variation Identified in Patients With Orofacial Clefts

Background: Orofacial clefts represent the most prevalent form of craniomaxillofacial deformity. Genetic factors are particularly significant in the development of orofacial clefts. This study was to investigate genetic variation in patients with orofacial clefts.

Methods: This is a retrospective descriptive study. Whole-exome sequencing (WES) was conducted to identify mutated genes and mutation loci in patients with orofacial clefts. The identified mutation was validated through Sanger sequencing. Furthermore, functional analysis of the mutated gene was performed by utilizing a comprehensive database.

Results: The results of WES showed IRF6 was mutated, and the variant locus was IRF6: NM_006147.4, IRF6 c.174+1delG chr1-209974583-ac-a. The variant locus was detected in the patient's mother with orofacial clefts by Sanger sequencing. The Human Gene Database for variant gene shows that the IRF6 gene may be associated with craniomaxillofacial developmental abnormalities.

Conclusion: The authors identified a novel locus within the IRF6 gene in a family with orofacial clefts that has not been previously reported. Functional analysis of the mutated gene suggests that this newly discovered mutation site may be associated with the genetic etiology of orofacial clefts in these patients. The findings will provide valuable data for elucidating the molecular mechanisms underlying orofacial clefts.

Level of evidence: IV.