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Iranian Journal of Basic Medical Sciences، جلد ۲۳، شماره ۸، صفحات ۱۰۲۰-۱۰۲۷
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عنوان انگلیسی 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
چکیده انگلیسی مقاله 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.
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نویسندگان مقاله | Aazam Ahmadi Shadmehri
Department of Genetics, Islamic Azad University, Science and Research Branch, Tehran , Iran


| Aliasgar Mohammadi
Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, 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


| Mohammad Reza Pourreza
Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran


| Mohammad Amin Tabatabaiefar
Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran|Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran
نشانی اینترنتی http://ijbms.mums.ac.ir/article_15953.html
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زبان مقاله منتشر شده en
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نوع مقاله منتشر شده Original Article
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