سامانه مدیریت نشریات علمی دانشگاه علوم پزشکی مشهد

Mohammadi, Aliasgar, Ahmadi Shadmehri, Aazam, Taghavi, Mahnaz, Yaghoobi, Gholamhossein, Pourreza, Mohammad Reza, Tabatabaiefar, Mohammad Amin. (1399). 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. , 23(8), 1020-1027. doi: 10.22038/ijbms.2020.36763.8757
Aliasgar Mohammadi; Aazam Ahmadi Shadmehri; Mahnaz Taghavi; Gholamhossein Yaghoobi; Mohammad Reza Pourreza; Mohammad Amin Tabatabaiefar. "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". , 23, 8, 1399, 1020-1027. doi: 10.22038/ijbms.2020.36763.8757
Mohammadi, Aliasgar, Ahmadi Shadmehri, Aazam, Taghavi, Mahnaz, Yaghoobi, Gholamhossein, Pourreza, Mohammad Reza, Tabatabaiefar, Mohammad Amin. (1399). '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', , 23(8), pp. 1020-1027. doi: 10.22038/ijbms.2020.36763.8757
Mohammadi, Aliasgar, Ahmadi Shadmehri, Aazam, Taghavi, Mahnaz, Yaghoobi, Gholamhossein, Pourreza, Mohammad Reza, Tabatabaiefar, Mohammad Amin. 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. , 1399; 23(8): 1020-1027. doi: 10.22038/ijbms.2020.36763.8757

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

Iranian Journal of Basic Medical Sciences
مقاله 8، دوره 23، شماره 8، آبان 2020، صفحه 1020-1027    اصل مقاله (687.41 K)
نوع مقاله: Original Article
شناسه دیجیتال (DOI): 10.22038/ijbms.2020.36763.8757
نویسندگان
Aliasgar Mohammadi1؛ Aazam Ahmadi Shadmehri2؛ Mahnaz Taghavi3؛ Gholamhossein Yaghoobi4، 5؛ Mohammad Reza Pourreza1؛ Mohammad Amin Tabatabaiefar* 1، 6
1Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
2Department of Genetics, Islamic Azad University, Science and Research Branch, Tehran , Iran
3Zeiss Ophthalmology Clinic, Tabas, South Khorasan, Iran
4Department of Ophthalmology, Birjand University of Medical Science, South Khorasan, Iran
5Social Detrimental Health Center, Birjand University of Medical Science, South Khorasan, Iran
6Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran
چکیده
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.
کلیدواژه‌ها
Corneal dystrophy Iran Next؛ generation sequencing Pathogenic variant TGFBI
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