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.
journal_name
Mol Med Repjournal_title
Molecular medicine reportsauthors
Lin Y,Gao H,Ai S,Eswarakumar JVP,Chen C,Zhu Y,Li T,Liu B,Liu X,Luo L,Jiang H,Li Y,Liang X,Jin C,Huang X,Lu Ldoi
10.3892/mmr.2017.7248subject
Has Abstractpub_date
2017-10-01 00:00:00pages
5333-5337issue
4eissn
1791-2997issn
1791-3004journal_volume
16pub_type
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