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A Pathogenic Variant in the Transforming Growth Factor Beta I (Tgfbi) in Four Iranian Extended Families Segregating Granular Corneal Dystrophy Type Ii: A Literature Review Publisher



Mohammadi A1 ; Shadmehri AA2 ; Taghavi M3 ; Yaghoobi G4, 5 ; Pourreza MR1 ; Tabatabaiefar MA1, 6
Authors

Source: Iranian Journal of Basic Medical Sciences Published:2020


Abstract

Objective(s): Granular and lattice corneal dystrophies (GCDs & 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. © 2020 Mashhad University of Medical Sciences. All rights reserved.
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