scholarly journals Study of TGFBI gene mutations in Ukrainian patients with corneal dystrophies

2008 ◽  
Vol 24 (1) ◽  
pp. 60-68
Author(s):  
V. M. Pampukha ◽  
G. I. Drozhyna ◽  
L. A. Livshits
Keyword(s):  
Gene Mutations ◽  
Corneal Dystrophies ◽  
Tgfbi Gene

TGFBI gene mutations in corneal dystrophies

2006 ◽  
Vol 27 (7) ◽  
pp. 615-625 ◽  
Author(s):  
Chitra Kannabiran ◽  
Gordon K. Klintworth
Keyword(s):  
Gene Mutations ◽  
Corneal Dystrophies ◽  
Tgfbi Gene

scholarly journals TGFBI gene mutations analysis in Chinese families with corneal dystrophies

2017 ◽  
Vol 15 (5) ◽  
pp. 3198-3202
Author(s):  
Xiaojuan Wang ◽  
Ming Ying ◽  
Changbo Fu ◽  
Yuchuan Wang ◽  
Ningdong Li
Keyword(s):  
Gene Mutations ◽  
Chinese Families ◽  
Corneal Dystrophies ◽  
Tgfbi Gene

Spectrum of TGFBI gene mutations among Polish patients with corneal dystrophies

2008 ◽  
Vol 86 ◽  
pp. 0-0
Author(s):  
M OLDAK ◽  
JP SZAFLIK ◽  
RB MAKSYM ◽  
U KOIODZIEJSKA ◽  
A POLLAK ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Corneal Dystrophies ◽  
Tgfbi Gene

TGFBI Gene Mutation Analysis in Families with Hereditary Corneal Dystrophies from Ukraine

2004 ◽  
Vol 218 (6) ◽  
pp. 411-414 ◽  
Author(s):  
V.M. Pampukha ◽  
G.I. Drozhyna ◽  
L.A. Livshits
Keyword(s):  
Gene Mutation ◽  
Mutation Analysis ◽  
Corneal Dystrophies ◽  
Tgfbi Gene ◽  
Gene Mutation Analysis

Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan

2000 ◽  
Vol 130 (4) ◽  
pp. 516-517 ◽  
Author(s):  
Yukihiko Mashima ◽  
Shuji Yamamoto ◽  
Yoshitsugu Inoue ◽  
Masakazu Yamada ◽  
Minako Konishi ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Corneal Dystrophies

Identification of two novel mutations in the cornea-specific TGFBI gene causing unique phenotypes in patients with corneal dystrophies

2016 ◽  
Vol 36 (6) ◽  
pp. 867-873 ◽  
Author(s):  
Sabine Foja ◽  
Katrin Hoffmann ◽  
Claudia Auw-Haedrich ◽  
Thomas Reinhard ◽  
Andreas Rupprecht ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Corneal Dystrophies ◽  
Tgfbi Gene

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.

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