A new mutation (Leu569Arg) within Exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I

Warren, John F; Abbott, Richard L.; Yoon, Michael K.; Crawford, J. Brooks; Spencer, William H.; Margolis, Todd P.

doi:10.1016/s0002-9394(03)00541-5

Cited by 33 publications

(15 citation statements)

References 22 publications

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“…LCD type I is mutationally heterogeneous (see Table 1), and the characteristic phenotype has also been associated with mutations of c.1553T4C (Leu518Pro) [Endo et al, 1999], c.1706T4G (Leu569Arg) [Warren et al, 2003] Aldave et al, 2004], c.1514T4A (Val505Asp) [Tian et al, 2005], and c.1616T4A (Val539Asp) . The mutations of Pro551Gln and Ala546Asp in cis (both changes being heterozygous) are associated with variable phenotypes.…”

Section: Lcd Type Imentioning

confidence: 99%

TGFBI gene mutations in corneal dystrophies

2006

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The lattice corneal dystrophies (LCD) and granular corneal dystrophies (GCD) are autosomal dominant disorders of the corneal stroma. They are bilateral, progressive conditions characterized by the formation of opacities arising due to the deposition of insoluble material in the corneal stroma leading to visual impairment. The LCDs and GCDs are distinguished from each other and are divided into subtypes on the basis of the clinical appearance of the opacities, clinical features of the disease, and on histopathological staining properties of the deposits. The GCDs and most types of LCD arise from mutations in the transforming growth factor beta-induced (TGFBI) gene on chromosome 5q31. Over 30 mutations causing LCD and GCD have been identified so far in the TGFBI. There are two mutation hotspots corresponding to arginine residues at positions 124 and 555 of the transforming growth factor beta induced protein (TGFBIp) and they are the most frequent sites of mutation in various populations. Mutations at either of these two hotspots result in specific types of LCD or GCD. The majority of identified mutations involve residues in the fourth fasciclin-like domain of TGFBIp.

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Section: Lcd Type Imentioning

confidence: 99%

TGFBI gene mutations in corneal dystrophies

2006

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“…The mutation in this case could be localized in other exon or intron of the TGFBI gene or could be detected at another gene. 16,17 The A546T mutation in the TGFBI gene that had been detected in the proband of family 2, was previously reported in cases of lattice dystrophy type IIIA-like that exhibited deposits similar to those observed in LCDI. 14 In four probands diagnosed with Reis-Bü cklers's corneal dystrophy, three were found to have the R555Q mutation reported to cause Thiel-Behnke dystrophy, whereas only one had the R124L mutation reported to cause Reis-Bü cklers's dystrophy.…”

Section: Discussionmentioning

confidence: 70%

“…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%

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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“…Third, leucine is hydrophobic and has a bulky side chain that, together with aspartic acid and Isoleucine, is known to be important for interacting with integrins. Three other leucine residues (L518, L527, and L569) have been mutated to arginine in families with various forms of lattice corneal dystrophies [Munier et al, 2002;Fujiki et al, 1998;Warren et al, 2003]. The relationship between these four amino acids is not straightforward and it is not currently known whether they interact through integrin binding or through another mechanism.…”

Section: Discussionmentioning

confidence: 99%

A subset of patients with epithelial basement membrane corneal dystrophy have mutations inTGFBI/BIGH3

Boutboul¹,

Black

Moore

et al. 2006

Hum. Mutat.

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Epithelial basement membrane corneal dystrophy (EBMD), also known as Cogan microcystic epithelial dystrophy or map-dot-fingerprint dystrophy, is a common bilateral epithelial dystrophy. Usually, this disease is not considered to be inherited although several families with autosomal dominant inheritance have been described. We report the analysis of two families with an autosomal dominant pattern of inheritance as well as the analysis of single affected individuals; we identified two different point mutations in the TGFBI/BIGH3 genes, genes known to be associated with other corneal dystrophies. This is the first report of a molecular mutation in individuals with EBMD and it increases the spectrum of mutations in the TGFBI/BIGH3 gene. Based on our screening, up to 10% of EBMD patients could have a mutation in this gene.

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A new mutation (Leu569Arg) within Exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I

Cited by 33 publications

References 22 publications

TGFBI gene mutations in corneal dystrophies

TGFBI gene mutations in corneal dystrophies

TGFBI gene mutations in Brazilian patients with corneal dystrophy

A subset of patients with epithelial basement membrane corneal dystrophy have mutations inTGFBI/BIGH3

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