A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy.
OBJECTIVE
To identify the genetic defect in a Belgian family with congenital stromal corneal dystrophy.


METHODS
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).


CONCLUSIONS
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.
Rødahl
Eyvind
E
Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway. eyvind.rodahl@helse-bergen.no
Van Ginderdeuren
Rita
R
Knappskog
Per M
PM
Bredrup
Cecilie
C
Boman
Helge
H
D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000378:metabolism; D003319:Corneal Stroma / Q000378:metabolism*; D004252:DNA Mutational Analysis; D058575:Decorin; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005190:Family; D005260:Female; D016368:Frameshift Mutation; D015870:Gene Expression; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D016133:Polymerase Chain Reaction; D011509:Proteoglycans / Q000235:genetics*; D017384:Sequence Deletion
C546878:DCN protein, human; D058575:Decorin; D016326:Extracellular Matrix Proteins; D011509:Proteoglycans