摘要
目的分析一个先天性眼外肌纤维化伴鼻窦炎家系临床表型，并通过连锁分析对该家系致病基因进行定位。方法临床工作中收集-CFEOM家系（4代41人，16人患病），所有患者进行眼科检查、头颅及眼眶磁共振检查，确定其临床分型及遗传特征；根据该家系显性遗传特征及目前已知的2种常染色体显性遗传类型的CFEOM的遗传学位点12p11．2-q12（FEOM1）和16q24（FEOM3）选取微卫星进行连锁分析。结果该家系所有患者主要临床表现为先天性双眼下斜位、眼球运动不同程度受限、被动牵拉实验阳性，伴单眼或双眼上眼睑下垂、下颌上举、头后仰，MRI检查发现该家系所有发病者均伴有鼻窦炎、下鼻甲肥大，少年发病者（Ⅳ1、Ⅳ11）伴有腺样体肥大。系谱分析表明，该家系符合常染色体显性遗传特征。临床表现结合遗传特点，该遗传家系为CFEOM3，连锁分析显示，该家系在12号染色体D12S331、D12S59及D12S1668处，LOD值均大于1．0，于D12S1048处获得最大LOD值2．19。结论此家系属常染色体显性遗传的CFEOM3型，致病基因与D12S331、D12S59和D12S1668存在连锁关系。
Objective To clinically characterize a cllected family of congenital fibrosis of extraocular muscles associated with nasosinusitis,then determine the genetic location of the disease gene by linkage analysis to approach the etiopathogenisis of CFEOM on gene. Methods A CFEOM family （fifteen cases suffering from congenital general fibrosis syndrome in four generations of 41 members） was cllected. All the suffers were correlated with clinical ophthalmic and thin-sectioned magnetic resonance imaging across the orbit and the brain-stem level to determine its clinical classification and genetic characteristics. The family was tested for linkage analysis to two known autosomal dominant CFEOM loci on chromosome 12pl 1.2-q12 （FEOM1） and 16q24 （FEOM3）. Results All the suffers had congenital unilateral or bilateral blepharoptosis, head tilt, chin lift, primary gaze fixed in a hypo-and exotropic position, forced duction testing positive. But vertical and horizontal positions of the eye and restriction of eye movement were diferent among affected individuals. Furthermore, MRI examinations showed that all the incidence of those families associated with nasosinusitis and hypertrophic inferior turbinate,and the juveniles with hypertrophic adenoid. Pedigree shows that the family were in line with the characteristics of autosomal dominant inheritance. According to the genetic characteristics and clinical manifestations, the genetic family should be reffered as CFEOM3. The loci scores for D12S331, D12S59 and D12S1668 were between 1 and 3, and the nmximum lod score was 2. 19 for D12S1048,but the lod scores for D16S520, D16S498 and D16S2621 were both 〈 1.0. Conclusion This family is best classified as CFEOM3 and linkage with D12S331, D12S59 and D12S1668.
出处
《中华眼科杂志》
CAS
CSCD
北大核心
2012年第3期262-266,共5页
Chinese Journal of Ophthalmology
基金
湖北省科技攻关项目（2006AA301B58）
关键词
动眼肌
纤维化
眼球运动障碍
系谱
鼻窦炎
Oculomotor muscles
Fibrosis
Ocular motility disorders
Pedigree
Sinusitis
