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

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 sups ports a role for decorin in the pathogenesis of this disorder.