A Second Decorin Frame Shift Mutation in a Family With Congenital Stromal Corneal Dystrophy

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• 作者：Eyvind Rø ; dahl ; Rita Van Ginderdeuren ; Per M. Knappskog ; Cecilie Bredrup and Helge Boman
• 刊名：American Journal of Ophthalmology
• 出版年：2006
• 出版时间：September 2006
• 年：2006
• 卷：142
• 期：3
• 页码：520-521
• 全文大小：104 K

文摘

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.