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BIGH3 Gene Mutations and Rapid Detection in Korean Patients With Corneal Dystrophy

 Hae-Sook Kim  ;  Sungjoo Kim Yoon  ;  Beom-Jin Cho  ;  Eung Kweon Kim  ;  Choun-Ki Joo 
 CORNEA, Vol.20(8) : 844-849, 2001 
Journal Title
Issue Date
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Chromosomes, Human, Pair 5/genetics ; Corneal Dystrophies, Hereditary/diagnosis ; Corneal Dystrophies, Hereditary/ethnology ; Corneal Dystrophies, Hereditary/genetics* ; DNA Mutational Analysis ; DNA Primers/chemistry ; Extracellular Matrix Proteins* ; Female ; Genetic Testing/methods ; Humans ; Korea/epidemiology ; Male ; Middle Aged ; Mutation* ; Neoplasm Proteins/genetics* ; Pedigree ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Polymorphism, Single-Stranded Conformational ; Transforming Growth Factor beta/genetics*
Corneal dystrophy ; BIGH3gene ; Mutation ; Mutant-specific reverse primer ; Rapid screening
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 patients. METHODS: Polymerase chain reaction single strand conformational polymorphism (PCR-SSCP) analysis was performed with the DNA from patients and healthy individuals. We sequenced the PCR products with the aberrant SSCP pattern to identify the mutation. Mutant-specific reverse primers were used to screen genomic DNA for the identified mutations. RESULTS: We identified mutations R124C in the CDL1 family and R124H in four families with a granular dystrophy. We identified our granular dystrophy to be Avellino corneal dystrophy (ACD). Eighteen of 20 patients with a granular dystrophy contained the same R124H mutation, indicating that mutation R124H was very common in Korean patients with ACD. During this study, we identified a new polymorphism (T1667C, F540F). CONCLUSIONS: This is the first report of mutations found in the BIGH3 gene in Korean families with corneal dystrophy. We report that the majority (90%) of ACD patients in Korea carry the R124H mutation. Mutant-specific reverse primers can be used to screen efficiently for CDL1 and ACD.
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1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Eung Kweon(김응권) ORCID logo https://orcid.org/0000-0002-1453-8042
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