Genetics of Crouzon Syndrome

DOI

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.

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  - Aida Ariella
AU  - Elza Ibrahim Auerkari
PY  - 2018/05
DA  - 2018/05
TI  - Genetics of Crouzon Syndrome
BT  - Proceedings of the 11th International Dentistry Scientific Meeting (IDSM 2017)
PB  - Atlantis Press
SP  - 1
EP  - 13
SN  - 2468-5739
UR  - https://doi.org/10.2991/idsm-17.2018.1
DO  - 10.2991/idsm-17.2018.1
ID  - Ariella2018/05
ER  -