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

Authors :
YING LIN
HONGBIN GAO
SIMING AI
ESWARAKUMAR, JACOB V. P.
CHUAN CHEN
YI ZHU
TAO LI
BINGQIAN LIU
XIALIN LIU
LIXIA LUO
HONGYE JIANG
YONGHAO LI
XIAOLING LIANG
CHENJIN JIN
XINHUA HUANG
LIN LU
Source :
Molecular Medicine Reports; Oct2017, Vol. 16 Issue 4, p5333-5337, 5p
Publication Year :
2017

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
17912997
Volume :
16
Issue :
4
Database :
Complementary Index
Journal :
Molecular Medicine Reports
Publication Type :
Academic Journal
Accession number :
127560686
Full Text :
https://doi.org/10.3892/mmr.2017.7248