先天性基质性角膜营养不良家族中的第二个核心蛋白聚糖移码突变。
A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy.
作者信息
Rødahl Eyvind, Van Ginderdeuren Rita, Knappskog Per M, Bredrup Cecilie, Boman Helge
机构信息
Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway.
出版信息
Am J Ophthalmol. 2006 Sep;142(3):520-1. doi: 10.1016/j.ajo.2006.03.064.
PURPOSE
To identify the genetic defect in a Belgian family with congenital stromal corneal dystrophy.
DESIGN
Case report and result of deoxyribonucleic acid (DNA) analyses.
METHODS
DNA sequencing of polymerase chain reaction (PCR) products generated from amplification of exons and adjacent introns of the decorin gene.
RESULTS
The family consisted of a mother and her son, both suffering from congenital stromal corneal dystrophy. In both individuals, a single base pair deletion (c.941delC) in the coding sequence of the decorin gene was demonstrated, predicting a C-terminal truncation of the decorin protein (p.Pro314fsX14).
CONCLUSION
This is the second family with congenital stromal corneal dystrophy of the cornea in which a frame shift mutation in the decorin gene has been detected. Both in this family and in a previously reported Norwegian family, a decorin protein missing the 33 C-terminal amino acids is predicted. This observation strongly supports a role for decorin in the pathogenesis of this disorder.
目的
确定一个患有先天性基质性角膜营养不良的比利时家族中的基因缺陷。
设计
病例报告及脱氧核糖核酸（DNA）分析结果。
方法
对从核心蛋白聚糖基因外显子及相邻内含子扩增得到的聚合酶链反应（PCR）产物进行DNA测序。
结果
该家族由一位母亲及其儿子组成，两人均患有先天性基质性角膜营养不良。在这两人中，均证实核心蛋白聚糖基因编码序列存在单碱基对缺失（c.941delC），预测核心蛋白聚糖蛋白C端截短（p.Pro314fsX14）。
结论
这是第二个被检测出核心蛋白聚糖基因存在移码突变的先天性基质性角膜营养不良家族。在这个家族以及之前报道的一个挪威家族中，均预测存在缺失33个C端氨基酸的核心蛋白聚糖蛋白。这一观察结果有力地支持了核心蛋白聚糖在该疾病发病机制中的作用。
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