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: Mohammadi A; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran., Ahmadi Shadmehri A; Department of Genetics, Islamic Azad University, Science and Research Branch, Tehran, Iran., Taghavi M; Zeiss Ophthalmology Clinic, Tabas, South Khorasan, Iran., Yaghoobi G; Department of Ophthalmology, Birjand University of Medical Science, South Khorasan, Iran.; Social Detrimental Health Center, Birjand University of Medical Science, South Khorasan, Iran., Pourreza MR; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran., Tabatabaiefar MA; 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.
Jazyk: angličtina
Zdroj: Iranian journal of basic medical sciences [Iran J Basic Med Sci] 2020 Aug; Vol. 23 (8), pp. 1020-1027.
DOI: 10.22038/ijbms.2020.36763.8757
Abstrakt: Objectives: 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: MEDLINE
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