Open Access

C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients

  • Authors:
    • Ying Lin
    • Hongbin Gao
    • Siming Ai
    • Jacob V.P. Eswarakumar
    • Chuan Chen
    • Yi Zhu
    • Tao Li
    • Bingqian Liu
    • Xialin Liu
    • Lixia Luo
    • Hongye Jiang
    • Yonghao Li
    • Xiaoling Liang
    • Chenjin Jin
    • Xinhua Huang
    • Lin Lu
  • View Affiliations

  • Published online on: August 14, 2017     https://doi.org/10.3892/mmr.2017.7248
  • Pages: 5333-5337
  • Copyright: © Lin et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )


Abstract

The current study was performed with aim to investigate the fibroblast growth factor receptor 2 (FGFR2) gene in two Chinese families with two different forms of syndromic craniosynostosis, and to characterize their associated clinical features. Two families underwent complete ophthalmic examinations, and two patients from each family were diagnosed with craniosynostosis. Genomic DNA was extracted from leukocytes of peripheral blood collected from these two families and from 200 unrelated subjects within the same population as controls. Exons 8 and 10 of the FGFR2 gene were amplified by polymerase chain reaction and directly sequenced. Ophthalmic examinations of the two patients revealed shallow orbits and ocular proptosis, accompanied by midface hypoplasia and craniosynostosis. Case 1 had retinal detachment, abnormal limbs and hands, while case 2 exhibited normal hands and feet upon clinical examination. A heterozygous FGFR2 missense mutation c.833G>T (C278F) in exon 8 was identified in these two patients, but not in unaffected family members or the normal controls. Although FGFR2 gene mutations and polymorphisms have been studied in various ethnic groups, we report a mutation of FGFR2 in two different Chinese patients with two different types of syndromic craniosynostosis.

Related Articles

Journal Cover

October-2017
Volume 16 Issue 4

Print ISSN: 1791-2997
Online ISSN:1791-3004

Sign up for eToc alerts

Recommend to Library

Copy and paste a formatted citation
x
Spandidos Publications style
Lin Y, Gao H, Ai S, Eswarakumar JV, Chen C, Zhu Y, Li T, Liu B, Liu X, Luo L, Luo L, et al: C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients. Mol Med Rep 16: 5333-5337, 2017
APA
Lin, Y., Gao, H., Ai, S., Eswarakumar, J.V., Chen, C., Zhu, Y. ... Lu, L. (2017). C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients. Molecular Medicine Reports, 16, 5333-5337. https://doi.org/10.3892/mmr.2017.7248
MLA
Lin, Y., Gao, H., Ai, S., Eswarakumar, J. V., Chen, C., Zhu, Y., Li, T., Liu, B., Liu, X., Luo, L., Jiang, H., Li, Y., Liang, X., Jin, C., Huang, X., Lu, L."C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients". Molecular Medicine Reports 16.4 (2017): 5333-5337.
Chicago
Lin, Y., Gao, H., Ai, S., Eswarakumar, J. V., Chen, C., Zhu, Y., Li, T., Liu, B., Liu, X., Luo, L., Jiang, H., Li, Y., Liang, X., Jin, C., Huang, X., Lu, L."C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients". Molecular Medicine Reports 16, no. 4 (2017): 5333-5337. https://doi.org/10.3892/mmr.2017.7248