Khan S H, Britto J A, Evans R D, Nischal K K
Department of Paediatric Ophthalmology, Great Ormond Street Hospital for Children, Great Ormond Street, London WC1N 3JH, UK.
Br J Ophthalmol. 2005 Dec;89(12):1643-5. doi: 10.1136/bjo.2005.075978.
To demonstrate the expression patterns of two fibroblast growth factor receptors (FGFR-2 and FGFR-3) in the normal human fetal orbit.
6 microm orbital slide sections were prepared from 12 week old human fetal material obtained within established ethical guidelines. Radioactive in situ hybridisation techniques were used to demonstrate the expression patterns of FGFR-2 and FGFR-3 within these sections. Only one foetus had appropriate orbital sections taken.
FGFR-2 was expressed within the extraocular muscles (EOMs) and the optic nerve sheath and to a lesser degree within the orbital periosteal margins and the cranial sutures. FGFR-3 was expressed a lot within the periosteal margins and cranial sutures but not within either the EOMs or the optic nerve sheath.
FGFR-2 and FGFR-3 are differentially expressed within different orbital components. FGFR-2 gene mutations may be responsible for craniosynostotic syndromes such as Crouzon, Pfeiffer, and Apert, while those in the FGFR-3 gene may cause isolated unicoronal synostosis. EOMs may be histologically abnormal in cases of Apert, Pfeiffer, and Crouzon syndromes but not isolated unicoronal synostosis. The pattern of expression of FGFR-2 in the normal human fetal orbit may explain some of the EOM histological findings seen in some cases of Apert, Pfeiffer, and Crouzon syndromes.
展示两种成纤维细胞生长因子受体(FGFR - 2和FGFR - 3)在正常人类胎儿眼眶中的表达模式。
从在既定伦理准则内获取的12周龄人类胎儿材料制备6微米厚的眼眶切片。采用放射性原位杂交技术来展示这些切片中FGFR - 2和FGFR - 3的表达模式。仅一个胎儿获取了合适的眼眶切片。
FGFR - 2在眼外肌(EOMs)和视神经鞘内表达,在眼眶骨膜边缘和颅缝中表达程度较低。FGFR - 3在骨膜边缘和颅缝中大量表达,但在EOMs或视神经鞘内均不表达。
FGFR - 2和FGFR - 3在不同眼眶成分中差异表达。FGFR - 2基因突变可能导致颅缝早闭综合征,如克鲁宗综合征、菲佛综合征和阿佩尔综合征,而FGFR - 3基因的突变可能导致孤立性单冠状缝早闭。在阿佩尔综合征、菲佛综合征和克鲁宗综合征病例中,EOMs可能存在组织学异常,但孤立性单冠状缝早闭则不然。FGFR - 2在正常人类胎儿眼眶中的表达模式可能解释了在某些阿佩尔综合征、菲佛综合征和克鲁宗综合征病例中所见的一些EOMs组织学发现。