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

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.