FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.

Abstract

The aim of the present study was to identify mutations in the fibroblast growth factor receptor 2 (FGFR2) gene in patients with Crouzon syndrome and characterize the associated clinical features. A total of two Chinese patients diagnosed with Crouzon syndrome underwent complete examinations, including best‑corrected visual acuity, slit‑lamp, examination, fundus examination, optical coherence tomography and computed tomography of the skull. Genomic DNA was extracted from peripheral blood samples collected from the patients, as well as their family members and 200 unrelated control subjects from the same population. Exons 8 and 10 in the FGFR2 gene were amplified by polymerase chain reaction and directly sequenced. Patient #1 had a heterozygous missense mutation (c.1025G>A, p.C342Y) in exon 10 of FGFR2. Patient #2 had a heterozygous mutation (c.1084+1 G>T; IVS10+1G>T) in intron 10. The mutations were not present in any of the unaffected family members or unrelated control subjects. These findings expand the mutation spectrum of FGFR2, and are valuable for genetic counseling in addition to prenatal diagnosis in patients with Crouzon syndrome.

• Authors: Ying Lin, Hongbin Gao, Siming Ai, Jacob V P Eswarakumar, Yi Zhu, Chuan Chen, Tao Li, Bingqian Liu, Hongye Jiang, Yuhua Liu, Yonghao Li, Qingxiu Wu, Haichun Li, Xiaoling Liang, Chenjin Jin, Xinhua Huang, Lin Lu
• Journal: Molecular medicine reports (Mol Med Rep) Vol. 16 Issue 5 Pg. 5841-5846 (Nov 2017) ISSN: 1791-3004 [Electronic] Greece
• PMID: 28901406 (Publication Type: Case Reports, Journal Article)

Chemical References

• FGFR2 protein, human
• Receptor, Fibroblast Growth Factor, Type 2

Topics

• Adult
• Asian People
• Child, Preschool
• Craniofacial Dysostosis (genetics, pathology)
• Exons (genetics)
• Female
• Genetic Predisposition to Disease
• Heterozygote
• Humans
• Mutation (genetics)
• Pedigree
• Receptor, Fibroblast Growth Factor, Type 2 (genetics)