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...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 implied a cystic lesion in her sellar and third ventricular regions.A missense mutation,FGFR2 p.Cys342 Trp,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.展开更多
BACKGROUND Crouzon syndrome(CS;OMIM 123500)is an autosomal dominant inherited craniofacial disorder caused by mutations in the fibroblast growth factor receptor 2(FGFR2)gene.CS is characterized by craniofacial dysosto...BACKGROUND Crouzon syndrome(CS;OMIM 123500)is an autosomal dominant inherited craniofacial disorder caused by mutations in the fibroblast growth factor receptor 2(FGFR2)gene.CS is characterized by craniofacial dysostosis,exophthalmos,and facial anomalies with hypoplastic maxilla and relative mandibular prognathism.CASE SUMMARY Our report involves a 6-year-old fraternal twin boy with many caries in the oral cavity who presented with characteristic features of CS based on clinical and radiographic examinations along with Sanger sequencing.The fraternal girl did not show any abnormalities indicating CS.Carious teeth and poor oral hygiene were managed promptly through administering appropriate behavior guidance,orthodontic treatment was planned,and preventive procedures were described.CONCLUSION CS could occur in a fraternal twin caused by a de novo mutation of the FGFR2 gene.Oral hygiene instruction,preventive programs on oral hygiene,orthodontic treatment,and maxillary osteotomy were required for treatment.展开更多
基金Supported by National Key Basic Research Program of China(No.2013CB967500)National Natural Science Foundation of China(No.81525006+4 种基金No.81670864No.81260154No.81460093)Jiangsu Province's Innovation TeamA Project Funded by the Priority Academic Program Development of Jiangsu Higher Education Institutions(PAPD)
文摘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 implied a cystic lesion in her sellar and third ventricular regions.A missense mutation,FGFR2 p.Cys342 Trp,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.
文摘BACKGROUND Crouzon syndrome(CS;OMIM 123500)is an autosomal dominant inherited craniofacial disorder caused by mutations in the fibroblast growth factor receptor 2(FGFR2)gene.CS is characterized by craniofacial dysostosis,exophthalmos,and facial anomalies with hypoplastic maxilla and relative mandibular prognathism.CASE SUMMARY Our report involves a 6-year-old fraternal twin boy with many caries in the oral cavity who presented with characteristic features of CS based on clinical and radiographic examinations along with Sanger sequencing.The fraternal girl did not show any abnormalities indicating CS.Carious teeth and poor oral hygiene were managed promptly through administering appropriate behavior guidance,orthodontic treatment was planned,and preventive procedures were described.CONCLUSION CS could occur in a fraternal twin caused by a de novo mutation of the FGFR2 gene.Oral hygiene instruction,preventive programs on oral hygiene,orthodontic treatment,and maxillary osteotomy were required for treatment.
