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

Hae Sook Kim, Sungjoo Kim Yoon, Beom Jin Cho, Eungkweon Kim, Choun Ki Joo

Research output: Contribution to journalArticle

44 Citations (Scopus)

Abstract

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. Mutantspecific 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.

Original languageEnglish
Pages (from-to)844-849
Number of pages6
JournalCornea
Volume20
Issue number8
DOIs
Publication statusPublished - 2001 Jan 1

Fingerprint

Mutation
Genes
Single-Stranded Conformational Polymorphism
Polymerase Chain Reaction
DNA
Korea
Chromosomes
Corneal dystrophy Avellino type

All Science Journal Classification (ASJC) codes

  • Ophthalmology

Cite this

Kim, Hae Sook ; Yoon, Sungjoo Kim ; Cho, Beom Jin ; Kim, Eungkweon ; Joo, Choun Ki. / BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy. In: Cornea. 2001 ; Vol. 20, No. 8. pp. 844-849.
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abstract = "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. Mutantspecific 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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BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy. / Kim, Hae Sook; Yoon, Sungjoo Kim; Cho, Beom Jin; Kim, Eungkweon; Joo, Choun Ki.

In: Cornea, Vol. 20, No. 8, 01.01.2001, p. 844-849.

Research output: Contribution to journalArticle

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AU - Cho, Beom Jin

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AU - Joo, Choun Ki

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N2 - 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. Mutantspecific 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.

AB - 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. Mutantspecific 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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