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

Genetics of Crouzon Syndrome

Authors
Aida Ariella, Elza Ibrahim Auerkari
Corresponding Author
Aida Ariella
Available Online May 2018.
DOI
https://doi.org/10.2991/idsm-17.2018.1How to use a DOI?
Keywords
Crouzon syndrome, Craniosynostosis, FGFR2 gene, Intracellular signaling
Abstract
Premature fusion of cranial sutures is called craniosynostosis. The prevalence of this condition is approximately 1 in 2100 to 1 in 2500 births. In approximately 20% of cases, mutations in single genes can be identified as causative agents of craniosynostosis. The most common form of craniosynostosis is called Crouzon syndrome. The fibroblast growth factor receptor 2 (FGFR2) gene is involved in the pathogenesis of Crouzon syndrome. This gene belongs to a family of transmem-brane tyrosine kinases and is located on10q26.13. The function of FGFR2 is to regulate the process of intracellular signaling. The inheritance pattern of Crouzon syndrome is autosomal dominant, whereby a single copy of the altered gene in each cell results in an affected individual. In addition to genetic factors, epigenet-ics also plays a role in Crouzon syndrome.
Open Access
This is an open access article distributed under the CC BY-NC license.

Download article (PDF)

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-17.2018.1How 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  - Aida Ariella
AU  - Elza Ibrahim Auerkari
PY  - 2018/05
DA  - 2018/05
TI  - Genetics of Crouzon Syndrome
BT  - 11th International Dentistry Scientific Meeting (IDSM 2017)
PB  - Atlantis Press
SN  - 2468-5739
UR  - https://doi.org/10.2991/idsm-17.2018.1
DO  - https://doi.org/10.2991/idsm-17.2018.1
ID  - Ariella2018/05
ER  -