Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2006 Sep;142(3):520-1.
doi: 10.1016/j.ajo.2006.03.064.

A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy

Eyvind Rødahl  1 , Rita Van Ginderdeuren, Per M Knappskog, Cecilie Bredrup, Helge Boman
Affiliations
Case Reports

A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy

Eyvind Rødahl et al. Am J Ophthalmol. 2006 Sep.

Abstract

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.

PubMed Disclaimer

Publication types