FGFR2 mutation in a Chinese family with unusual Crouzon syndrome

作者：Zili Li, Xue Chen, Wenjuan Zhuang, Wei Zhao, Yani Liu, Fang-Xia Zhang, Ruoshui Ha, Jinhua Wu, Chen Zhao, Xunlun Sheng · 发表于：International Journal of Ophthalmology · 年份：2016 · DOI：10.18240/ijo.2016.10.06 · 被引用次数：13 · 研究领域：Craniofacial Disorders and Treatments、Cleft Lip and Palate Research、Ocular Disorders and Treatments

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.