Transforming growth factor beta‐induced p.(L558P) variant is associated with autosomal dominant lattice corneal dystrophy type IV in a large cohort of Spanish patients

2019 ◽  
Vol 47 (7) ◽  
pp. 871-880
Author(s):  
Ezequiel Campos‐Mollo ◽  
Yago Varela‐Conde ◽  
Pedro Arriola‐Villalobos ◽  
Rubén Cabrera‐Beyrouti ◽  
José‐Manuel Benítez‐del‐Castillo ◽  
...  
Keyword(s):  
Growth Factor ◽  
Transforming Growth Factor Beta ◽  
Autosomal Dominant ◽  
Transforming Growth Factor ◽  
Corneal Dystrophy ◽  
Large Cohort ◽  
Lattice Corneal Dystrophy ◽  
Type Iv ◽  
Growth Factor Beta

scholarly journals Genotypic Homogeneity in Distinctive Transforming Growth Factor-Beta Induced (TGFBI) Protein Phenotypes

2021 ◽  
Vol 22 (3) ◽  
pp. 1230
Author(s):  
Sang Beom Han ◽  
Venkatraman Anandalakshmi ◽  
Chee Wai Wong ◽  
Si Rui Ng ◽  
Jodhbir S. Mehta
Keyword(s):  
Growth Factor ◽  
Transforming Growth Factor Beta ◽  
Transforming Growth Factor ◽  
Corneal Dystrophy ◽  
Ethnic Population ◽  
Corneal Dystrophies ◽  
Tgfbi Gene ◽  
Growth Factor Beta ◽  
Granular Corneal Dystrophy

Background: To evaluate the distribution of the transforming growth factor-beta induced (TGFBI) corneal dystrophies in a multi-ethnic population in Singapore, and to present the different phenotypes with the same genotype. Methods: This study included 32 patients. Slit lamp biomicroscopy was performed for each patient to determine the disease phenotype. Genomic DNA was extracted from the blood samples and the 17 exons of the TGFBI gene were amplified by PCR and sequenced bi-directionally for genotype analysis. Results: Regarding phenotypes, the study patients comprised 11 (34.4%; 8 with R555W and 3 with R124H mutation) patients with granular corneal dystrophy type 1 (GCD1), 6 (18.8%; 5 with R124H and 1 with R124C mutation) patients with GCD2, 13 (40.6%; 7 with R124C, 2 with H626R, 2 with L550P, 1 with A620D and 1 with H572R) patients with lattice corneal dystrophy (LCD) and 2 (6.3%; 1 with R124L and 1 with R124C) patients with Reis–Bückler corneal dystrophy. Regarding genotype, R124H mutation was associated with GCD2 (5 cases; 62.5%) and GCD1 (3 cases; 37.5%). R124C mutation was associated with LCD (7 cases; 87.5%) and GCD2 (1 case; 12.5%). All the 8 cases (100%) of R555W mutation were associated with GCD1. Conclusions: Although the association between genotype and phenotype was good in most cases (65.7%; 21 of 32 patients), genotype/phenotype discrepancy was observed in a significant number.

scholarly journals Author Response: Transforming Growth Factor Beta Switch in Aqueous Humor of Patients With Fuchs' Endothelial Corneal Dystrophy

2016 ◽  
Vol 57 (2) ◽  
pp. 773 ◽  
Author(s):  
Mario Matthaei ◽  
Johannes Gillessen ◽  
Philipp S. Muether ◽  
Robert Hoerster ◽  
Björn O. Bachmann ◽  
...  
Keyword(s):  
Growth Factor ◽  
Aqueous Humor ◽  
Transforming Growth Factor Beta ◽  
Transforming Growth Factor ◽  
Corneal Dystrophy ◽  
Author Response ◽  
Growth Factor Beta
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