FGFR2 mutation in a Chinese family with unusual Crouzon syndrome
FGFR2 mutation in a Chinese family with unusual Crouzon syndrome作者机构：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
出 版 物：《International Journal of Ophthalmology(English edition)》 (国际眼科杂志（英文版）)
年 卷 期：2016年第9卷第10期
页 面：1403-1408页
核心收录：
学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 100212[医学-眼科学] 10[医学]
基 金：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)
主 题：Crouzon syndrome familial cases phenotypic diversity FGFR2 mutation
摘 要：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.
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