@article { author = {Mohammadi, Aliasgar and Ahmadi Shadmehri, Aazam and Taghavi, Mahnaz and Yaghoobi, Gholamhossein and Pourreza, Mohammad Reza and Tabatabaiefar, Mohammad Amin}, title = {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}, journal = {Iranian Journal of Basic Medical Sciences}, volume = {23}, number = {8}, pages = {1020-1027}, year = {2020}, publisher = {Mashhad University of Medical Sciences}, issn = {2008-3866}, eissn = {2008-3874}, doi = {10.22038/ijbms.2020.36763.8757}, 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.}, keywords = {Corneal dystrophy Iran Next,generation sequencing Pathogenic variant TGFBI}, url = {https://ijbms.mums.ac.ir/article_15953.html}, eprint = {https://ijbms.mums.ac.ir/article_15953_faf2235b8abda62e2e88ee5c2e57c3d7.pdf} }