A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy

Yukihiko Mashima, Yu Nakamura, Kohsuke Noda, Minako Konishi, Masakazu Yamada, Jun Kudo, Nobuyoshi Shimizu

Research output: Contribution to journalArticle

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Abstract

Objective: To identity the mutation in a human transforming growth factor β-induced gene (BIGH3) in a Japanese family with a severe form of granular corneal dystrophy of early onset associated with recurrent corneal erosions. Patients: The tentative clinical diagnosis in this family was Reis- Bucklers corneal dystrophy; 4 persons affected with this disorder have been identified in 4 generations, and 3 of the 4 were examined. The proband underwent keratoplasties in our hospital (Keio University Hospital, Tokyo, Japan). Methods: The BIGH3 gene was examined for a mutation by the polymerase chain reaction and direct sequencing. Corneal buttons of the proband were stained and examined by electron microscopy. Results: Three affected persons were shown to have a heterozygous G→T transversion at the second nucleotide position of codon 124 (Arg→Leu) of the BIGH3 gene. In the proband, corneal deposits between the epithelium and the Bowman layer stained red with Masson trichrome stain. Electron microscopy revealed numerous electron-dense, rod- shaped bodies next to the epithelial basement membrane but no curly fibers suggestive of Thiel-Behnke dystrophy. Conclusion: A novel R124L mutation of the BIGH3 gene was associated in this family with a superficial variant of granular corneal dystrophy. Clinical Relevance: This mutation causes a severe form of superficial granular corneal dystrophy by producing abnormal keratoepithelin between the epithelium and the Bowman layer and thus clinical similarities to Reis-Bucklers corneal dystrophy.

Original languageEnglish
Pages (from-to)90-93
Number of pages4
JournalArchives of Ophthalmology
Volume117
Issue number1
Publication statusPublished - 1999 Jan

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Codon
Mutation
Genes
Electron Microscopy
Epithelium
Corneal Transplantation
Tokyo
Transforming Growth Factors
Basement Membrane
Japan
Nucleotides
Electrons
Polymerase Chain Reaction
Corneal dystrophy of Bowman layer, type 1

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Mashima, Y., Nakamura, Y., Noda, K., Konishi, M., Yamada, M., Kudo, J., & Shimizu, N. (1999). A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy. Archives of Ophthalmology, 117(1), 90-93.

A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy. / Mashima, Yukihiko; Nakamura, Yu; Noda, Kohsuke; Konishi, Minako; Yamada, Masakazu; Kudo, Jun; Shimizu, Nobuyoshi.

In: Archives of Ophthalmology, Vol. 117, No. 1, 01.1999, p. 90-93.

Research output: Contribution to journalArticle

Mashima, Y, Nakamura, Y, Noda, K, Konishi, M, Yamada, M, Kudo, J & Shimizu, N 1999, 'A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy', Archives of Ophthalmology, vol. 117, no. 1, pp. 90-93.
Mashima, Yukihiko ; Nakamura, Yu ; Noda, Kohsuke ; Konishi, Minako ; Yamada, Masakazu ; Kudo, Jun ; Shimizu, Nobuyoshi. / A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy. In: Archives of Ophthalmology. 1999 ; Vol. 117, No. 1. pp. 90-93.
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