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
Publish place: Iranian Journal of Basic Medical Sciences، Vol: 23، Issue: 8
Publish Year: 1399
نوع سند: مقاله ژورنالی
زبان: English
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JR_IJBMS-23-8_008
تاریخ نمایه سازی: 27 مرداد 1399
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
Authors
Aliasgar Mohammadi
Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
Aazam Ahmadi Shadmehri
Department of Genetics, Islamic Azad University, Science and Research Branch, Tehran , Iran
Mahnaz Taghavi
Zeiss Ophthalmology Clinic, Tabas, South Khorasan, Iran
Gholamhossein Yaghoobi
Department of Ophthalmology, Birjand University of Medical Science, South Khorasan, Iran|Social Detrimental Health Center, Birjand University of Medical Science, South Khorasan, Iran
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