scholarly journals TGFBI Gene

2020 ◽  
Author(s):  
Keyword(s):  
Tgfbi Gene

A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy

2021 ◽  
pp. 112067212199730
Author(s):  
Aino Maaria Jaakkola ◽  
Petri J Järventausta ◽  
Reetta-Stiina Järvinen ◽  
Pauliina Repo ◽  
Tero T Kivelä ◽  
...  
Keyword(s):  
Transforming Growth Factor Beta ◽  
Transforming Growth Factor ◽  
Late Onset ◽  
Family Members ◽  
Anterior Segment ◽  
Corneal Dystrophy ◽  
Ophthalmological Examination ◽  
Lattice Corneal Dystrophy ◽  
Tgfbi Gene ◽  
Novel Variant

Introduction: We describe the phenotype of a variant lattice corneal dystrophy (LCD) potentially caused by a novel variant c.1772C>T p.(Ser591Phe) in exon 13 of the transforming growth factor beta-induced (TGFBI) gene. Case report: The proband, a 71-year-old woman referred because of bilateral LCD, first seen at the age of 65 years, with recent progressive symptoms, underwent a clinical ophthalmological examination, anterior segment optical coherence tomography and confocal microscopy. Additionally, three siblings and three children were examined. The identified TGFBI variant was screened in six family members using Sanger sequencing. A corneal dystrophy gene screen was performed for the proband. Translucent subepithelial irregularities and central to midperipheral stubby branching corneal stromal lattice lines, asymmetric between the right and the left eye, were visible and resulted in mild deterioration of vision in one eye. Genetic testing revealed a novel variant c.1772C>T in TGFBI, leading to the amino acid change p.(Ser591Phe). One daughter carried the same variant but had only thick stromal nerve fibres at the age of 49 years. The other family members neither had corneal abnormalities nor carried the variant. No keratoplasty is yet planned for the proband. Conclusions: We classify the novel variant in TGFBI as possibly pathogenic, potentially causing the late-onset, asymmetric variant LCD. Our findings add to the growing number of TGFBI variants associated with a spectrum of phenotypes of variant LCD.

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

Corneal Dystrophy Caused by a Novel Mutation of the TGFBI Gene

2004 ◽  
pp. 438-439
Author(s):  
C Röcken ◽  
A Roessner ◽  
J Rüschoff ◽  
B Stix
Keyword(s):  
Novel Mutation ◽  
Corneal Dystrophy ◽  
Tgfbi Gene

Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the TGFBI gene

2019 ◽  
Vol 40 (4) ◽  
pp. 329-337
Author(s):  
Yosra Bouyacoub ◽  
Yousra Falfoul ◽  
Mariem Ouederni ◽  
Marwa Sayeb ◽  
Aschraf Chedli ◽  
...  
Keyword(s):  
Corneal Dystrophy ◽  
Type I ◽  
Tgfbi Gene ◽  
Tunisian Family

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

Accessible chromatin structure permits factors Sp1 and Sp3 to regulate human TGFBI gene expression

2011 ◽  
Vol 409 (2) ◽  
pp. 222-228 ◽  
Author(s):  
Jong-Joo Lee ◽  
Keunhee Park ◽  
Myeong Heon Shin ◽  
Wook-Jin Yang ◽  
Min-Ji Song ◽  
...  
Keyword(s):  
Gene Expression ◽  
Chromatin Structure ◽  
Tgfbi Gene ◽  
Accessible Chromatin

scholarly journals Dysregulation of the TGFBI gene is involved in the oncogenic activity of the nonsense mutation of hepatitis B virus surface gene sW182*

2014 ◽  
Vol 1842 (7) ◽  
pp. 1080-1087 ◽  
Author(s):  
Shih Sheng Jiang ◽  
Shiu-Feng Huang ◽  
Min-Syuan Huang ◽  
Yng-Tay Chen ◽  
Hsiang-Ju Jhong ◽  
...  
Keyword(s):  
Hepatitis B Virus ◽  
Hepatitis B ◽  
Nonsense Mutation ◽  
Virus Surface ◽  
Tgfbi Gene ◽  
B Virus ◽  
Oncogenic Activity ◽  
Surface Gene

scholarly journals Composition and proteolytic processing of corneal deposits associated with mutations in the TGFBI gene

2012 ◽  
Vol 96 (1) ◽  
pp. 163-170 ◽  
Author(s):  
Henrik Karring ◽  
Kasper Runager ◽  
Ida B. Thøgersen ◽  
Gordon K. Klintworth ◽  
Peter Højrup ◽  
...  
Keyword(s):  
Proteolytic Processing ◽  
Tgfbi Gene ◽  
Corneal Deposits

Late-Onset Lattice Corneal Dystrophy Without Typical Lattice Lines Caused by a Novel Mutation in the TGFBI Gene

Cornea ◽  
2014 ◽  
Vol 33 (3) ◽  
pp. 294-299 ◽  
Author(s):  
Monika Ołdak ◽  
Jacek P. Szaflik ◽  
Aneta Ścieżyńska ◽  
Monika Udziela ◽  
Radosław B. Maksym ◽  
...  
Keyword(s):  
Late Onset ◽  
Novel Mutation ◽  
Corneal Dystrophy ◽  
Lattice Corneal Dystrophy ◽  
Tgfbi Gene
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