TY - JOUR
T1 - An analysis of BIGH3 mutations in patients with corneal dystrophies in the Kyushu district of Japan
AU - Yoshida, Shigeo
AU - Kumano, Yuji
AU - Yoshida, Ayako
AU - Hisatomi, Toshio
AU - Matsui, Hiroyasu
AU - Nishida, Teruo
AU - Ishibashi, Tatsuro
AU - Matsui, Takao
N1 - Funding Information:
This work was supported in part by grants from the Sumitomo Life Social Welfare Services Foundation (SY), the Japan National Society for the Prevention of Blindness (AY), and the Japan Eye Bank Association (AY).
PY - 2002/7
Y1 - 2002/7
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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U2 - 10.1016/S0021-5155(02)00528-2
DO - 10.1016/S0021-5155(02)00528-2
M3 - Article
C2 - 12225829
AN - SCOPUS:0036661487
SN - 0021-5155
VL - 46
SP - 469
EP - 471
JO - Japanese Journal of Ophthalmology
JF - Japanese Journal of Ophthalmology
IS - 4
ER -