Genetics of Crouzon Syndrome
Aida Ariella, Elza Ibrahim Auerkari
Available Online May 2018.
- https://doi.org/10.2991/idsm-17.2018.1How to use a DOI?
- Crouzon syndrome, Craniosynostosis, FGFR2 gene, Intracellular signaling
- 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.
Cite this article
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 - https://doi.org/10.2991/idsm-17.2018.1 ID - Ariella2018/05 ER -