FGFR2 mutation in a Chinese family with unusual Crouzon syndrome
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Xun-Lun Sheng. Department of Ophthalmology, People Hospital of Ningxia Hui Autonomous Region, Ningxia Hui Autonomous Region, Yinchuan 750000, China. shengxunlun@163.com; Chen Zhao. Department of Ophthalmology, the First Affiliated Hospital of Nanjing Medical University, State Key Laboratory of Reproductive Medicine, Nanjing 210029, Jiangsu Province, China. dr_zhaochen@163.com

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Supported by National Key Basic Research Program of China (No.2013CB967500); National Natural Science Foundation of China (No.81525006; No.81670864; No.81260154; No.81460093); Jiangsu Province’s Innovation Team; A Project Funded by the Priority Academic Program Development of Jiangsu Higher Education Institutions (PAPD).

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    Abstract:

    AIM: To describe the clinical characteristics with genetic lesions in a Chinese family with Crouzon syndrome. METHODS: All five patients from this family were included and received comprehensive ophthalmic and systemic examinations. Direct sequencing of the FGFR2 gene was employed for mutation identification. Crystal structure analysis was applied to analyze the structural changes associated with the substitution. RESULTS: All patients presented typical Crouzon features, including short stature, craniosynostosis, mandibular prognathism, shallow orbits with proptosis, and exotropia. Intrafamilial phenotypic diversities were observed. Atrophic optic nerves were exclusively detected in the proband and her son. Cranial magnetic resonance imaging (MRI) implied a cystic lesion in her sellar and third ventricular regions. A missense mutation, FGFR2 p.Cys342Trp, was found as disease causative. This substitution would generate conformational changes in the extracellular Ig-III domain of the FGFR-2 protein, thus altering its physical and biological properties. CONCLUSION: We describe the clinical presentations and genotypic lesions in a Chinese family with Crouzon syndrome. The intrafamilial phenotypic varieties in this family suggest that other genetic modifiers may also play a role in the pathogenesis of Crouzon syndrome.

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Zi-Li Li, Xue Chen, Wen-Juan Zhuang, et al. FGFR2 mutation in a Chinese family with unusual Crouzon syndrome. Int J Ophthalmol, 2016,9(10):1403-1408

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Publication History
  • Received:January 10,2016
  • Revised:April 12,2016
  • Adopted:
  • Online: October 13,2016
  • Published: