A pathogenic variant in the transforming growth factor beta I <i>(TGFBI)</i> in four Iranian extended families segregating granular corneal dystrophy type II: A literature review

Mohammadi, Aliasgar and Ahmadi Shadmehri, Aazam and Taghavi, Mahnaz and Yaghoobi, Gholamhossein and Pourreza, Mohammad Reza and Tabatabaiefar, Mohammad Amin (2020) A pathogenic variant in the transforming growth factor beta I <i>(TGFBI)</i> in four Iranian extended families segregating granular corneal dystrophy type II: A literature review. Iranian Journal of Basic Medical Sciences, 23 (8). pp. 1020-1027.

[img] Text
IJBMS_Volume 23_Issue 8_Pages 1020-1027.pdf

Download (703kB)
Official URL: http://ijbms.mums.ac.ir/article_15953.html

Abstract

Objective(s): Granular and lattice corneal dystrophies (GCDs &amp; LCDs) are autosomal dominant inherited disorders of the cornea. Due to genetic heterogeneity and large genes, unraveling the mutation is challenging.Materials and Methods: Patients underwent comprehensive clinical examination, and targeted next-generation sequencing (NGS) was used for mutation detection. Co-segregation and in silico analysis was accomplished.Results: Patients suffered from GCD. NGS disclosed a known pathogenic variant, c.371G>A (p.R124H), in exon 4 of TGFBI. The variant co-segregated with the phenotype in the family. Homozygous patients manifested with more severe phenotypes. Variable expressivity was observed among heterozygous patients. Conclusion: The results, in accordance with previous studies, indicate that the c.371G>A in TGFBI is associated with GCD. Some phenotypic variations are related to factors such as modifier genes, reduced penetrance and environmental effects.

Item Type: Article
Uncontrolled Keywords: Corneal dystrophy Iran Next,generation sequencing Pathogenic variant TGFBI
Subjects: QU Biochemistry
Divisions: Journals > Iranian J Basic Medical Sciences
Depositing User: ijbms ijbms
Date Deposited: 28 Jun 2020 09:47
Last Modified: 28 Jun 2020 09:47
URI: http://eprints.mums.ac.ir/id/eprint/19390

Actions (login required)

View Item View Item