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FGFR2 mutation in a Chinese family with unusual Crouzon syndrome

International Journal of Ophthalmology(English edition) 2016年第10期9卷 1403-1408页

作者： Zi-Li Li Xue Chen Wen-Juan Zhuang Wei Zhao Ya-Ni Liu Fang-Xia Zhang Ruo-Shui Ha Jin-Hua Wu Chen Zhao Xun-Lun Sheng Ningxia Eye Hospital People Hospital of Ningxia Hui Autonomous Region (First Affiliated Hospital of Northwest University for Nationalities) Yinchuan 750001 Ningxia Hui Autonomous Region China Department of Ophthalmology the First Affiliated Hospital of Nanjing Medical University State Key Laboratory of Reproductive Medicine Nanjing 210029 Jiangsu ProvinceChina Central Laboratory of Ningxia Medical University Yinchuan 750000 Ningxia Hui Autonomous Region China Department of Radiology People Hospital of Ningxia Hui Autonomous Region Yinchuan 750000 Ningxia Hui Autonomous Region China

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 *** sequencing of the FGFR2 gene was employed for mutation *** 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 *** phenotypic diversities were *** optic nerves were exclusively detected in the proband and her *** magnetic resonance imaging implied a cystic lesion in her sellar and third ventricular regions.A missense mutation,FGFR2 ***342 Trp,was found as disease *** substitution would generate conformational changes in the extracellular Ig-III domain of the FGFR-2 protein,thus altering its physical and biological ***： We describe the clinical presentations and genotypic lesions in a Chinese family with Crouzon *** intrafamilial phenotypic varieties in this family suggest that other genetic modifiers may also play a role in the pathogenesis of Crouzon syndrome.

关键词： Crouzon syndrome familial cases phenotypic diversity FGFR2 mutation

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