Purpose: To identify mutations in the decorin (DCN) gene in family members with congenital hereditary stromal dystrophy (CHSD).
Methods: Bilateral deep anterior lamellar keratoplasties using a big-bubble technique and a 60-kHz femtosecond laser (IntraLase; Abbott Medical Optics, Irvine, CA) for zig-zag incisions were performed for the patients with CHSD. Medical records were reviewed for the proband's daughter with the same corneal manifestation who had bilateral penetrating keratoplasty 8 years before. After obtaining informed consent from the pediatric patients and their guardians, we sampled the peripheral blood of 2 patients and the proband's son who had no clinical manifestation of CHSD. Genomic DNA was extracted from white blood cells. Eight exons and exon-intron boundaries of the DCN gene were amplified by polymerase chain reaction using specific primers for each exon. The polymerase chain reaction products were subsequently analyzed using the direct DNA sequencing method.
Results: The proband and her daughter showed typical pathological findings of CHSD, such as lamellae of normal collagen fibrils separated by layers of abnormal collagen filaments, as seen on electron microscopic examination. A novel mutation c.947delG (p.Gly316AspfsX12) was identified in the exon 8 of the DCN gene, which might lead to an abnormal truncation of the C-terminal in the decorin protein. However, the proband's son who was without any sign of CHSD showed a normal sequence of the DCN gene.
Conclusions: We report a novel frameshift mutation of the DCN gene in a Korean family with CHSD.