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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
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Authors Affiliations
  1. 1. Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
  2. 2. Department of Genetics, Islamic Azad University, Science and Research Branch, Tehran, Iran
  3. 3. Zeiss Ophthalmology Clinic, Tabas, South Khorasan, Iran
  4. 4. Department of Ophthalmology, Birjand University of Medical Science, South Khorasan, Iran
  5. 5. Social Detrimental Health Center, Birjand University of Medical Science, South Khorasan, Iran
  6. 6. Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran

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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