Genetics of Cherubism

DOI

10.2991/idsm-17.2018.25How to use a DOI?

Keywords

cherubism, genetics, SH3BP2 gene, point mutation

Abstract

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.

Copyright

© 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/).

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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  - 10.2991/idsm-17.2018.25
ID  - Firdaus2018/05
ER  -