An analysis of BIGH3 mutations in patients with corneal dystrophies in the Kyushu district of Japan

Shigeo Yoshida, Yuji Kumano, Ayako Yoshida, Toshio Hisatomi, Hiroyasu Matsui, Teruo Nishida, Tatsuro Ishibashi, Takao Matsui

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

Purpose: To assess the involvement of BIGH3 in corneal dystrophies (CD) with an autosomal dominant trait, in patients referred to a hospital in the Kyushu district of Japan. Methods: Forty-five CD patients from 44 families were studied. Genomic DNA was extracted from peripheral blood, and exons 4 and 12 of the BIGH3 gene were amplified by polymerase chain reaction followed by direct sequencing. Results: In exon 4, an R124H mutation associated with Avellino corneal dystrophy (ACD) was found in 39/44 families (86.4%) and an R124C mutation associated with lattice corneal dystrophy type 1 (LCD1) was detected in 2/44 families (4.5%). In exon 12, an R555W mutation associated with granular corneal dystrophy (GCD) was detected in 4/44 families (9.1%). Conclusions: Codons R124 and R555 of the BIGH3 gene represent mutational hotspots in the genomes of Japanese patients with autosomal-dominant CD.

Original languageEnglish
Pages (from-to)469-471
Number of pages3
JournalJapanese Journal of Ophthalmology
Volume46
Issue number4
DOIs
Publication statusPublished - Jul 1 2002

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Japan
Exons
Mutation
1,1,1,2-tetrafluoro-2-chloroethane
Codon
Genes
Genome
Polymerase Chain Reaction
DNA

All Science Journal Classification (ASJC) codes

  • Ophthalmology

Cite this

Yoshida, S., Kumano, Y., Yoshida, A., Hisatomi, T., Matsui, H., Nishida, T., ... Matsui, T. (2002). An analysis of BIGH3 mutations in patients with corneal dystrophies in the Kyushu district of Japan. Japanese Journal of Ophthalmology, 46(4), 469-471. https://doi.org/10.1016/S0021-5155(02)00528-2

An analysis of BIGH3 mutations in patients with corneal dystrophies in the Kyushu district of Japan. / Yoshida, Shigeo; Kumano, Yuji; Yoshida, Ayako; Hisatomi, Toshio; Matsui, Hiroyasu; Nishida, Teruo; Ishibashi, Tatsuro; Matsui, Takao.

In: Japanese Journal of Ophthalmology, Vol. 46, No. 4, 01.07.2002, p. 469-471.

Research output: Contribution to journalArticle

Yoshida, Shigeo ; Kumano, Yuji ; Yoshida, Ayako ; Hisatomi, Toshio ; Matsui, Hiroyasu ; Nishida, Teruo ; Ishibashi, Tatsuro ; Matsui, Takao. / An analysis of BIGH3 mutations in patients with corneal dystrophies in the Kyushu district of Japan. In: Japanese Journal of Ophthalmology. 2002 ; Vol. 46, No. 4. pp. 469-471.
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abstract = "Purpose: To assess the involvement of BIGH3 in corneal dystrophies (CD) with an autosomal dominant trait, in patients referred to a hospital in the Kyushu district of Japan. Methods: Forty-five CD patients from 44 families were studied. Genomic DNA was extracted from peripheral blood, and exons 4 and 12 of the BIGH3 gene were amplified by polymerase chain reaction followed by direct sequencing. Results: In exon 4, an R124H mutation associated with Avellino corneal dystrophy (ACD) was found in 39/44 families (86.4{\%}) and an R124C mutation associated with lattice corneal dystrophy type 1 (LCD1) was detected in 2/44 families (4.5{\%}). In exon 12, an R555W mutation associated with granular corneal dystrophy (GCD) was detected in 4/44 families (9.1{\%}). Conclusions: Codons R124 and R555 of the BIGH3 gene represent mutational hotspots in the genomes of Japanese patients with autosomal-dominant CD.",
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AU - Matsui, Hiroyasu

AU - Nishida, Teruo

AU - Ishibashi, Tatsuro

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N2 - Purpose: To assess the involvement of BIGH3 in corneal dystrophies (CD) with an autosomal dominant trait, in patients referred to a hospital in the Kyushu district of Japan. Methods: Forty-five CD patients from 44 families were studied. Genomic DNA was extracted from peripheral blood, and exons 4 and 12 of the BIGH3 gene were amplified by polymerase chain reaction followed by direct sequencing. Results: In exon 4, an R124H mutation associated with Avellino corneal dystrophy (ACD) was found in 39/44 families (86.4%) and an R124C mutation associated with lattice corneal dystrophy type 1 (LCD1) was detected in 2/44 families (4.5%). In exon 12, an R555W mutation associated with granular corneal dystrophy (GCD) was detected in 4/44 families (9.1%). Conclusions: Codons R124 and R555 of the BIGH3 gene represent mutational hotspots in the genomes of Japanese patients with autosomal-dominant CD.

AB - Purpose: To assess the involvement of BIGH3 in corneal dystrophies (CD) with an autosomal dominant trait, in patients referred to a hospital in the Kyushu district of Japan. Methods: Forty-five CD patients from 44 families were studied. Genomic DNA was extracted from peripheral blood, and exons 4 and 12 of the BIGH3 gene were amplified by polymerase chain reaction followed by direct sequencing. Results: In exon 4, an R124H mutation associated with Avellino corneal dystrophy (ACD) was found in 39/44 families (86.4%) and an R124C mutation associated with lattice corneal dystrophy type 1 (LCD1) was detected in 2/44 families (4.5%). In exon 12, an R555W mutation associated with granular corneal dystrophy (GCD) was detected in 4/44 families (9.1%). Conclusions: Codons R124 and R555 of the BIGH3 gene represent mutational hotspots in the genomes of Japanese patients with autosomal-dominant CD.

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