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.
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.
Authors: Anthony J Aldave; George O D Rosenwasser; Vivek S Yellore; Jeanette C Papp; Eric M Sobel; Michele N Pham; Michael C Chen; Sugandha Dandekar; Ram Sripracha; Sylvia A Rayner; Joseph W Sassani; Michael B Gorin Journal: Invest Ophthalmol Vis Sci Date: 2010-03-31 Impact factor: 4.799
Authors: Guiyun Zhang; Shoujun Chen; Silvia Goldoni; Bennett W Calder; Holly C Simpson; Rick T Owens; David J McQuillan; Marian F Young; Renato V Iozzo; David E Birk Journal: J Biol Chem Date: 2009-01-09 Impact factor: 5.157
Authors: C J Jaworski; M Aryankalayil-John; M M Campos; R N Fariss; J Rowsey; N Agarwalla; T W Reid; N Dushku; C A Cox; D Carper; G Wistow Journal: Mol Vis Date: 2009-11-20 Impact factor: 2.367