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
| Autor: | Aliasgar Mohammadi, Aazam Ahmadi Shadmehri, Mahnaz Taghavi, Gholamhossein Yaghoobi, Mohammad Reza Pourreza, Mohammad Amin Tabatabaiefar |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: | |
| Zdroj: | Iranian Journal of Basic Medical Sciences, Vol 23, Iss 8, Pp 1020-1027 (2020) |
| Druh dokumentu: | article |
| ISSN: | 2008-3866 2008-3874 |
| DOI: | 10.22038/ijbms.2020.36763.8757 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
|