Proceedings of the 11th International Dentistry Scientific Meeting (IDSM 2017)

Genetics of Cherubism

Authors
Nikita Syahrussiami Firdaus, Elza Ibrahim Auerkari
Corresponding Author
Nikita Syahrussiami Firdaus
Available Online May 2018.
DOI
https://doi.org/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.
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Proceedings
11th International Dentistry Scientific Meeting (IDSM 2017)
Part of series
Advances in Health Sciences Research
Publication Date
May 2018
ISBN
978-94-6252-513-9
ISSN
2468-5739
DOI
https://doi.org/10.2991/idsm-17.2018.25How to use a DOI?
Open Access
This is an open access article distributed under the CC BY-NC license.

Cite this article

TY  - CONF
AU  - Nikita Syahrussiami Firdaus
AU  - Elza Ibrahim Auerkari
PY  - 2018/05
DA  - 2018/05
TI  - Genetics of Cherubism
BT  - 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  -