Genetics of Cherubism
- https://doi.org/10.2991/idsm-17.2018.25How to use a DOI?
- cherubism, genetics, SH3BP2 gene, point mutation
Cherubism, characterized by bone resorption limited to either side of the jaws, is a rare bone dysplasia that leads to facial swelling. The swelling is symmetrical, hard, and painless. The disorder typically begins in childhood and then slowly deceler-ates, stopping at puberty. Studies have reported the existence of both mild and severe cases of cherubism. It can be caused by various types of genetic mutation. Most of them are point mutations and can be transitions, translations, or dele-tions. The type of mutation will determine whether the condition is mild or severe. It is important to know and understand the genetic factors of cherubism to de-termine the correct diagnosis and treatment plan for the disease. In this paper, we will discuss the etiology, manifestation, pathophysiology, and genetics of cherubism.
- © 2018, the Authors. Published by Atlantis Press.
- Open Access
- This is an open access article distributed under the CC BY-NC license (http://creativecommons.org/licenses/by-nc/4.0/).
Cite this article
TY - CONF AU - Nikita Syahrussiami Firdaus AU - Elza Ibrahim Auerkari PY - 2018/05 DA - 2018/05 TI - Genetics of Cherubism BT - Proceedings of the 11th International Dentistry Scientific Meeting (IDSM 2017) PB - Atlantis Press SP - 190 EP - 198 SN - 2468-5739 UR - https://doi.org/10.2991/idsm-17.2018.25 DO - https://doi.org/10.2991/idsm-17.2018.25 ID - Firdaus2018/05 ER -