A econd Decorin Frame hift Mutation in a Family With Congenital tromal Corneal Dytrophy

Purpoe To identify the genetic defect in a Belgian family with congenital tromal corneal dytrophy. Deign Cae report and reult of deoxyribonucleic acid (DNA) analye. Method DNA equencing of polymerae chain reaction (PCR) product generated from amplification of exon and adjacent intron of the decorin gene. Reult The family conited of a mother and her on, both uffering from congenital tromal corneal dytrophy. In both individual, a ingle bae pair deletion (c.941delC) in the coding equence of the decorin gene wa demontrated, predicting a C-terminal truncation of the decorin protein (p.Pro314fX14). Concluion Thi i the econd family with congenital tromal corneal dytrophy of the cornea in which a frame hift mutation in the decorin gene ha been detected. Both in thi family and in a previouly reported Norwegian family, a decorin protein miing the 33 C-terminal amino acid i predicted. Thi obervation trongly upport a role for decorin in the pathogenei of thi diorder.