Six Different Mutations of TGFBI (βig-h3, Keratoepithelin) Gene Found in Japanese Corneal Dystrophies

Fujiki, Keiko; Hotta, Yoshihiro; Nakayasu, Kiyoo; Yamaguchi, Tatsuo; Kato, Takuji; Uesugi, Yuko; Hà, Nguyễn Thanh; Endo, Shinichiro; Ishida, Naoto; Lu, Wen-Nan; Kanai, Atsushi

doi:10.1097/00003226-200011000-00015

Cited by 43 publications

(27 citation statements)

References 23 publications

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“…No mutation was detected in 8 patients from four families with LCD or in the 50 normal volunteers. Table 2 shows the findings of our study including findings from Fujiki et al (2000), and findings of studies at two widely separated institutions in Japan (Mashima et al 2000). Codons R124 and R555 are hot spots in Japanese patients.…”

Section: Resultsmentioning

confidence: 93%

“…1. Interestingly, ACD with the R124H mutation is more common in Japanese patients than in Caucasians, and GCD with the R555W mutation, which is the classic form of GCD without lattice deposits, is rare in Japanese patients Fujiki et al 2000). Homozygous R124H or R555W mutation of this gene has been reported (Mashima et al 1997(Mashima et al , and 2000Fujiki et al 1998a;Okada et al 1998a and1998c).…”

Section: Resultsmentioning

confidence: 99%

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Corneal dystrophies in Japan

2001

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Recent advances in molecular genetics have increased our understanding of the role of genes. Four autosomal dominant corneal dystrophies (CDs); granular CD (GCD), Avellino CD (ACD), lattice CD (LCD), and ReisBücklers CD (RBCD) were mapped to the long arm of chromosome 5 (5q31). These four diseases were shown, in a Caucasian series, to result from different missense mutations in the TGFBI (BIGH3, keratoepithelin) gene. The same mutations were also detected in Japanese patients, from a different ethnic background. Gelatinous drop-like corneal dystrophy (GDLD), on the other hand, which was found in Japanese patients in 1914, is a rare autosomal recessive disorder characterized by corneal amyloidosis. Parents of the patients had a markedly higher frequency of consanguineous marriages than the general population. The gene responsible for GDLD, the membrane component, chromosome 1, surface marker 1 (M1S1) gene was mapped to the short arm of chromosome 1(1p). Four deleterious mutations in this gene were detected in Japanese patients. We review here additional studies on mutations of the TGFBI and M1S1 genes found in Japanese patients. In the TGFBI gene, nine different mutations were detected in Japanese patients with GCD, ACD, LCD, or RBCD. The codons R124 and R555 of the TGFBI gene were hotspots in Japanese patients, of whom many were ACD patients with the R124H mutation. New mutations responsible for LCD were detected in the TGFBI gene of patients with LCD, in addition to the P501T mutation in LCD type IIIA found earlier. These studies showed a clear genotype/phenotype correlation associated with the TGFBI gene. In the M1S1 gene, the Q118X mutation was the most common alteration, and a founder mutation in Japanese GDLD patients, as previously reported. Ninety-two percent of the mutated alleles were the Q118X.

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Section: Resultsmentioning

confidence: 93%

Section: Resultsmentioning

confidence: 99%

Corneal dystrophies in Japan

2001

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“…Inherited mutations of the BIGH3 gene that have been associated with lattice corneal dystrophies were identified in several countries (8)(9)(10)(11). Among others, for CDL1, a Cto-T mutation at nucleotide position 417 in exon 4, leading to a R124C mutation within FAS1 domain 1, was frequently found in several families throughout the world (12)(13)(14).…”

Section: Resultsmentioning

confidence: 99%

First Genetic Analysis of Lattice Corneal Dystrophy Type I in a Family from Bulgaria

Capoluongo

Benedetti

Concolino³

et al. 2005

European Journal of Ophthalmology

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“…Several studies reported mutations in exons 11, 13, and 14 of the TGFBI gene in cases of lattice dystrophy. 1,7,15,16 As the proband of family 1 have not shown mutation in exons 4 and 12 we investigated exons 11, 13, and 14 but the sequence analysis have not detected mutation. Many reasons can explain this result.…”

Section: Discussionmentioning

confidence: 99%

“…2,4,5 Mutations in the TGFBI gene have been described in patients from many nationalities. [7][8][9][10][11][12] We report the first series of Brazilian patients screened for mutations in the TGFBI gene.…”

Section: Introductionmentioning

confidence: 99%

TGFBI gene mutations in Brazilian patients with corneal dystrophy

Solari

Ventura

Perez

et al. 2006

Eye

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Purpose To investigate the transforming growth factor beta-induced gene (TGFBI) mutations in Brazilian patients with corneal dystrophy and to evaluate the phenotypegenotype correlation in these patients. Methods A total of 11 unrelated families were studied. The diagnosis of corneal dystrophy was based on clinical and histopathological findings. Genomic DNA was extracted from peripheral blood leucocytes, and exons 4 and 12 of the TGFBI gene were amplified by polymerase chain reaction followed by direct sequencing on both strands. Results Five different mutations in the TGFBI gene were found in the probands. We identified the following mutations: lattice corneal dystrophyFR124C and A546T; Reis-Bü cklers corneal dystrophyFR555Q and R124L; granular corneal dystrophyFR555W and Avellino dystrophyFR555W. In three of the 11 studied families there was no mutation in exons 4 and 12. Conclusions This is the first report of mutations in the TGFBI gene in a series of Brazilian patients with corneal dystrophy. The findings indicate that TGFBI gene screening should be considered in the diagnosis of corneal dystrophy.

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Six Different Mutations of TGFBI (βig-h3, Keratoepithelin) Gene Found in Japanese Corneal Dystrophies

Abstract: We conclude that codons R124 and R555 of the TGFBI gene are also hot spots in Japanese patients with ACD, LCD, GCD, and RBCD. Many Japanese patients with CD had ACD with R124H mutation. GCD with R555W mutation was rare.

Cited by 43 publications

References 23 publications

Corneal dystrophies in Japan

Corneal dystrophies in Japan

First Genetic Analysis of Lattice Corneal Dystrophy Type I in a Family from Bulgaria

TGFBI gene mutations in Brazilian patients with corneal dystrophy

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