TGFBIGene Mutations Causing Lattice and Granular Corneal Dystrophies in Indian Patients

Abstract

Arg124Cys and Arg555Trp appear to be the predominant mutations causing LCD and GCD, respectively, in the population studied. The novel mutations identified in this study are associated with distinct phenotypes.

TGFBI gene mutations in Brazilian patients with corneal dystrophy

“…4,6 Several mechanisms have been implicated in the pathogenesis of the TGFBI-related corneal dystrophies. Some authors suggest that mutations could affect the tertiary structure of keratoepithelin causing the protein subunits to polymerize into different structures or that the modified domains could impair the binding of keratoepithelin to stromal proteins such as collagen type VI affecting the structural characteristics of the tissue.…”

“…Some authors suggest that mutations could affect the tertiary structure of keratoepithelin causing the protein subunits to polymerize into different structures or that the modified domains could impair the binding of keratoepithelin to stromal proteins such as collagen type VI affecting the structural characteristics of the tissue. 4,6,10,15 Some studies indicate that mutations at amino acid R124 abolish a phosphorylation site that could affect the tertiary structure of keratoepithelin leading to amyloid formation. 4,20,22,23 Further studies are necessary to understand the role of keratoepithelin in normal corneal structure and function.…”

“…1,4,5 Keratoepithelin, the protein product of the TGFBI gene, is an extracellular matrix protein expressed in many tissues including corneal epithelium. 4,6 Most patients have mutations at mutational hot spots, corresponding to arginine 124 and 555 of the keratoepithelin protein. 5,6 The diagnosis of corneal dystrophy is usually based on the clinical findings and the histopathological characteristics of the corneal deposits.…”

“…4,6 Most patients have mutations at mutational hot spots, corresponding to arginine 124 and 555 of the keratoepithelin protein. 5,6 The diagnosis of corneal dystrophy is usually based on the clinical findings and the histopathological characteristics of the corneal deposits. The genotypic approach contributes to the assessment and refinement of the diagnosis of corneal dystrophies particularly in the atypical cases.…”

“…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.…”