A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy

Stewart, Helen; Black, Graeme; Donnai, Dian; Bonshek, Richard; McCarthy, John; Morgan, Steven; Dixon, Michael J.; Ridgway, Alan A.E

doi:10.1016/s0161-6420(99)00539-4

Cited by 90 publications

(50 citation statements)

References 13 publications

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“…The Hep27 gene encodes a short-chain alcohol dehydrogenase that is induced in growth-arrested cells (Gabrielli et al, 1995) and during monocyte to dendritic cell differentiation (Heinz et al, 2002). The TGFBI gene (also called BigH3) was first identified as a TGFbinduced gene and has since been linked to corneal dystrophies and colon carcinomas (Stewart et al, 1999;Buckhaults et al, 2001). As shown in Figure 3, Northern blotting confirmed that expression of the Hep27 and TGFBI genes increased dramatically following expression of c-Myb in MCF7 cells.…”

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Distinct changes in gene expression induced by A-Myb, B-Myb and c-Myb proteins

et al. 2003

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The c-Myb, A-Myb and B-Myb transcription factors have nearly identical DNA-binding domains, activate the same reporter gene constructs in animal cells, but have different biological roles. The Myb proteins are often coexpressed in the same cells, raising questions about whether they activate similar or distinct gene expression profiles, and whether they cooperate or compete in regulating the same promoters. Here, recombinant adenoviruses were used to express each protein in human mammary cells, and then microarray assays were used to assess global changes in gene expression. Each Myb protein induced a unique and specific set of changes, displaying activities far more complex than revealed by standard reporter gene assays. These results have important implications for the roles of various Myb proteins in normal and transformed human cells, for regulatory pathways that might modify their activities and for the importance of acquired mutations that may qualitatively alter their functions in tumors.

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confidence: 99%

Distinct changes in gene expression induced by A-Myb, B-Myb and c-Myb proteins

et al. 2003

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“…[8][9][10][11] In addition, a variety of novel mutations in TGFBI gene were also found to cause atypical, non-classic forms of LCD. [12][13][14][15][16] Recently, P501T mutation of TGFBI gene was identified as a cause of LCDIIIA in Japanese families. 17 In this study, we report the clinical and genetic findings in 13 unrelated Vietnamese families with LCD.…”

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confidence: 99%

H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people

Chau¹

2003

British Journal of Ophthalmology

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Background/aims: Mutations of the human transforming growth factor β induced gene (TGFBI) were reported to cause lattice corneal dystrophy (LCD) in various nationalities. This study analysed the TGFBI gene in Vietnamese people with LCD. Methods: 13 unrelated families, including 34 patients and 21 unaffected members were examined. 50 normal Vietnamese people served as controls. Blood samples were collected. Genomic DNA was extracted from leucocytes. Analysis of TGFBI gene was performed using the polymerase chain reaction and direct sequencing. Corneal buttons were studied histopathologically. Results: Two clinically distinguishable forms of LCD were revealed: one was typical of LCDI; the other was characterised by the late onset, thick lattice lines, and asymmetry between two eyes. Sequencing of the TGFBI gene revealed R124C mutation in three families and H626R mutation in 10 families. Congo red staining of the H626R-LCD cornea showed amyloid deposits in the subepithelial and stromal layers. Conclusions: R124C and H626R mutations of TGFBI gene caused LCD in Vietnamese people. R124C, a common cause of LCDI in many nationalities, was relatively rare, whereas H626R reported in several white people but not yet in Asians was most common (>75%) in Vietnamese people. Since the phenotype caused by H626R represents a new variant intermediate between LCDI and LCDIIIA, we proposed to consider it as LCD type IIIB.

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“…Identification of more families with the H626P mutation in the TGFBI gene will be useful to further explore genotype-phenotype correlations. H626P is not the only disease-causing mutation reported for codon 626 in TGFBI ; H626R has been found in several families of different ethnic backgrounds causing atypical variants of LCD with amyloid deposits in the mid and anterior stroma [1][2][3][4][5]8] . This suggests that codon 626 may be a hotspot together with codons 124 and 555 [10] , and that exons 4, 12 and 14 should be a priority when screening for mutations in TGFBI .…”

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confidence: 99%

“…Several autosomal dominant diseases encompassing various subtypes of lattice corneal dystrophy (LCD), granular corneal dystrophy types I and II, Reis-Bücklers corneal dystrophy (RBCD), also referred to as granular corneal dystrophy type III, and Thiel-Behnke corneal dystrophy have been shown to be caused by mutations in the transforming-growth-factor-␤ -induced (TGFBI, BIGH3) gene, and a number of nucleotide changes have been identified in patients from different populations [1][2][3][4][5][6][7][8][9][10] . In this report we characterize inherited corneal disorders caused by mutations in the TGFBI gene in families of Czech origin.…”

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confidence: 99%

Phenotype Associated with the H626P Mutation and Other Changes in the <i>TGFBI</i> Gene in Czech Families

et al. 2008

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Aims: To evaluate mutations in the transforming-growth-factor-β-induced (TGFBI) gene in patients of Czech origin with autosomal dominant corneal dystrophies. Methods: The coding sequence of the TGFBI gene was analysed in 22 affected Czech individuals from 7 apparently unrelated families. Comparison of phenotype to genotype was performed. Results: A H626P mutation, previously only described in a family with a variant of lattice corneal dystrophy (LCD), was detected in one family with superficial geographic corneal opacities. Light microscopy of 2 samples obtained following either a prior superficial keratectomy or keratoplasty showed amyloid but no fuchsinophilic deposits. In a family with LCD type I, an R124C mutation was identified. The R124L mutation was shown to be causative of Reis-Bücklers corneal dystrophy in 2 families. A family with Thiel-Behnke corneal dystrophy exhibited an R555Q mutation. In 2 families with granular corneal dystrophy type I, the typical R555W change was identified. Conclusion: The phenotype of the family with the H626P mutation differed from the phenotype previously reported for this change.

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A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy

Cited by 90 publications

References 13 publications

Distinct changes in gene expression induced by A-Myb, B-Myb and c-Myb proteins

Distinct changes in gene expression induced by A-Myb, B-Myb and c-Myb proteins

H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people

Phenotype Associated with the H626P Mutation and Other Changes in the <i>TGFBI</i> Gene in Czech Families

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