Kerato-epithelin mutations in four 5q31-linked corneal dystrophies

Munier, Francis L.; Korvatska, Elena; Djemaï, A.; Paslier, Denis Le; Zografos, Léonidas; Pescia, G; Schorderet, Daniel F.

doi:10.1038/ng0397-247

Cited by 450 publications

(254 citation statements)

References 25 publications

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“…All affected members of the family have an R124C mutation in the BIGH3 gene. The same mutation was found in Caucasian 3 and Japanese patients with LCDI. 24 This suggests that this mutation occurs independently in several ethnic groups.…”

Section: Discussionsupporting

confidence: 70%

“…This mutation has previously been reported in LCDI. [3][4][5][6] The unaffected members of the family did not have the mutation as determined by a cosegregation study of the restriction digest analysis in which the mutation abolishes the recognition site of AvaII. The three affected members showed one undigested product of the expected size (310 bp) for the mutant allele plus two restriction digest products (190 bp and 110 bp) from the normal allele.…”

Section: Resultsmentioning

confidence: 99%

“…2 Several phenotypic variants of corneal dystrophies with an autosomal dominant inheritance were reported to result from specific mutation(s) in BIGH3 (or transforming growth factor, b-induced [TGFBI]) gene on chromosome 5q31 (Table 1). Lattice corneal dystrophy type I (LCDI, OMIM 122200), [3][4][5][6] LCD type IIIA (LCDIIIA), [7][8][9][10][11] intermediate type I/IIIA (LCDI/IIIA), [9][10][11][12] deep stromal LCD (LCDIV), [13][14][15] granular corneal dystrophy (GCD, OMIM 121900), 3,4,15 Avellino corneal dystrophy (ACD, OMIM 121900), 3,4,16 Thiel Behnke corneal dystrophy or corneal dystrophy of Bowman layer type 2 (CDB2, OMIM 602082) 3,4,17,20 , and Reis-Bü cklers' corneal dystrophy (RBCD, OMIM 121900) all result from mutations in BIGH3. [17][18][19][20] These conditions are defined by their clinical manifestations and the histological characteristics of corneal deposits.…”

Section: Introductionmentioning

confidence: 99%

“…2 It has been reported that both R124C and L518P mutations were responsible for LCDI in both Caucasian and Japanese families. [3][4][5][6] In this study, a Bangladeshi family has been studied both clinically and genetically. Our results revealed a heterozygous C to T transition at the first nucleotide position of codon 124 in the BIGH3 gene in all affected members.…”

Section: Introductionmentioning

confidence: 99%

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BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI

El-Ashry¹,

El-Aziz²,

Ficker³

et al. 2004

Eye

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Aims To report a Bangladeshi family displaying intrafamilial phenotypic heterogeneity of lattice corneal dystrophy type I (LCDI) and to identify the causative mutation. Methods Molecular genetic analysis was performed on DNA extracted from all members of the family. Exons of BIGH3 gene were amplified by polymerase chain reaction. Gene mutation and polymorphisms were identified by heteroduplex and sequence analyses. Segregation of the mutation in the family was confirmed by restriction digestion of amplified gene fragments.Results A heterozygous C-T transition at the first nucleotide position of codon 124 of the BIGH3 gene was detected in the three affected members and not in the unaffected members of the family. Conclusions This is the first report of BIGH3 gene mutation in a Bangladeshi family with phenotypic heterogeneity. This study confirms that BIGH3 gene screening should be undertaken for proper classification of corneal dystrophy, especially in the absence of histopathological examination.

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Section: Discussionsupporting

confidence: 70%

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI

El-Ashry¹,

El-Aziz²,

Ficker³

et al. 2004

Eye

View full text Add to dashboard Cite

show abstract

“…1,2 Recent molecular analysis showed that different types of corneal dystrophies are caused by mutations in the transforming growth factor beta-induced gene (TGFBI), located on chromosome 5q31. [2][3][4] Several phenotypes are caused by specific mutations in the TGFBI gene such as: lattice corneal dystrophy type I (CDL1, OMIM122200), lattice corneal dystrophy type IIIA (LCDIIIA), granular corneal dystrophy (CDGG1, OMIM 121900), Avellino corneal dystrophy (ACD, OMIM 121900), Reis-Bü cklers's corneal dystrophy (CDRB, OMIM 121900), and Thiel-Behnke corneal dystrophy (CDB2, OMIM 602082). 1,4,5 Keratoepithelin, the protein product of the TGFBI gene, is an extracellular matrix protein expressed in many tissues including corneal epithelium.…”

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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Immunolocalization of βig-h3 Protein in 5q31-Linked Corneal Dystrophies and Normal Corneas

Streeten

Qi²,

Eagle³

et al. 1999

Arch Ophthalmol

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To characterize the relation of the ␤ig-h3 protein to the diagnostic corneal deposits in the hereditary corneal dystrophies recently shown to have mutations in the βig-h3 gene on chromosome 5q31. Methods: Corneas with lattice, granular, mixed granularlattice ("Avellino"), and 2 types of Reis-Bü cklers dystrophy were diagnosed by the histochemical and ultrastructural characteristics of their abnormal aggregates. Dystrophic and normal corneas were compared for immunolocalization of ␤ig-h3 protein. Results: In normal corneas, immunoreactivity for ␤ig-h3 protein was strongest in the Bowman layer, and next strong along stromal interlamellar junctions and attachment sites of collagen to the Descemet membrane. Antibody binding was intense on all dystrophic aggregates, mimicking somewhat the normal protein distribution. Mixed granular-lattice dystrophy had the most variation in ␤ig-h3-immunopositive forms. The aggregates in both the "rod-shaped" Reis-Bü cklers type and the "curly fiber" Thiel-Behnke type were strongly stained for ␤ig-h3 protein, consistent with mutations on the βig-h3 gene. Conclusions: The marked immunopositivity for ␤ig-h3 protein in the abnormal deposits in these dystrophies indicates that ␤ig-h3 protein is a major component. The variety and quantity of immunopositive forms suggests that they consist primarily of the mutant protein, self-polymerizing and/or incorrectly binding to other corneal components. Variability of forms may relate to both the specific mutation and regional interactions of this protein.

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Kerato-epithelin mutations in four 5q31-linked corneal dystrophies

Cited by 450 publications

References 25 publications

BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI

BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI

TGFBI gene mutations in Brazilian patients with corneal dystrophy

Immunolocalization of βig-h3 Protein in 5q31-Linked Corneal Dystrophies and Normal Corneas

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