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

Lin,Ying; Gao,Hongbin; Ai,Siming; Eswarakumar,Jacob V.P.; Zhu,Yi; Chen,Chuan; Li,Tao; Liu,Bingqian; Jiang,Hongye; Liu,Yuhua; Li,Yonghao; Wu,Qingxiu; Li,Haichun; Liang,Xiaoling; Jin,Chenjin; Huang,Xinhua; Lu,Lin

doi:10.3892/mmr.2017.7397

FGFR2 mutations and associated clinical observations in two Chinese 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
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Affiliations: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑Sen University, Guangzhou, Guangdong 510060, P.R. China, Department of Toxicology, School of Public Health and Tropical Medicine, Southern Medical University, Guangzhou, Guangdong 510515, P.R. China, Department of Orthopaedics and Rehabilitation, Yale University School of Medicine, New Haven, CT 06520, USA, Department of Obstetrics and Gynecology, The First Affiliated Hospital, Sun Yat‑Sen University, Guangzhou, Guangdong 510000, P.R. China
Published online on: August 29, 2017 https://doi.org/10.3892/mmr.2017.7397
Pages: 5841-5846
Copyright: © Lin et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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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.

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