Journal
ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY
Volume 136, Issue 2, Pages E109-E115Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.oooo.2023.04.004
Keywords
-
Categories
Ask authors/readers for more resources
This study investigated the relationship between congenital coronoid process hyperplasia (CPH) and TGFB3 gene mutation, and found that compound heterozygous mutations in the TGFB3 gene or homozygous mutations in the 3'UTR may be correlated with CPH.
Objective. Coronoid process hyperplasia (CPH) of the mandible can lead to restricted mouth opening and maxillofacial deformities, which have been hypothesized to be closely associated with genetics. This study investigated the relationship between congenital CPH and TGFB3 mutation in a family of patients with CPH.Study Design. A limited mouth opening proband with CPH underwent whole-exome gene sequencing in November 2019, and the results confirmed compound heterozygous mutations in the TGFB3 gene. Subsequently, clinical imaging and genetic testing were performed on 10 other individuals in his family.Results. A total of 9 people in this family have CPH. Among them, 6 have the same exon compound heterozygous mutation sites of the TGFB3 gene (chr14-76446905 and chr14-76429713), accompanied by homozygous or heterozygous mutations in the 30untranslated region (30UTR) of the TGFB3 gene (chr14:76429555). The other 3 individuals have a homozygous mutation in the 30untranslated region of the TGFB3 gene.Conclusion. The heterogeneous compound mutation of the TGFB3 gene or the homozygous mutation of 3'UTR of the TGFB3 gene may be correlated with CPH. In addition, the specifically related mechanism needs to be confirmed by further genetic animal experiments. (Oral Surg Oral Med Oral Pathol Oral Radiol 2023;136:e109-e115)
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available