BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy

Purpose. Mutations in the BIGH3 gene on chromosome 5q31 cause four distinct autosomal dominant corneal dystrophies. We sought to determine whether the BIGH3 gene mutation was responsible for corneal dystrophy in Korean patien ts. Methods. Polymerase chain reaction single strand conformational polymor phism (PCR-SSCP) analysis was performed with the DNA from patients and heal thy individuals. We sequenced the PCR products with the aberrant SSCP patte rn to identify the mutation. Mutant-specific reverse primers were used to s creen genomic DNA for the identified mutations. Results. We identified muta tions R124C in the CDL1 family and R124H in four families with a granular d ystrophy. We identified our granular dystrophy to be Avellino corneal dystr ophy (ACD). Eighteen of 20 patients with a granular dystrophy contained the same R124H mutation, indicating that mutation R124H was very common in Kor ean patients with ACD. During this study, we identified a new polymorphism (T1667C, F540F). Conclusions. This is the first report of mutations found i n the BIGH3 gene in Korean families with corneal dystrophy. We report that the majority (90%) of ACD patients in Korea carry the R124H mutation. Mutan t-specific reverse primers can be used to screen efficiently for CDL1 and A CD.