Mohammadi Aliasgar, Ahmadi Shadmehri Azam, Taghavi Mahnaz, Yaghoobi Gholamhossein, Pourreza Mohammad Reza, Tabatabaiefar Mohammad Amin
Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Department of Genetics, Islamic Azad University, Science and Research Branch, Tehran, Iran.
Iran J Basic Med Sci. 2020 Aug;23(8):1020-1027. doi: 10.22038/ijbms.2020.36763.8757.
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.
Patients underwent comprehensive clinical examination, and targeted next-generation sequencing (NGS) was used for mutation detection. Co-segregation and analysis was accomplished.
Patients suffered from GCD. NGS disclosed a known pathogenic variant, c.371G>A (p.R124H), in exon 4 of . The variant co-segregated with the phenotype in the family. Homozygous patients manifested with more severe phenotypes. Variable expressivity was observed among heterozygous patients.
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.
颗粒状和格子状角膜营养不良（GCDs和LCDs）是角膜的常染色体显性遗传性疾病。由于基因异质性和基因庞大，确定突变具有挑战性。
患者接受了全面的临床检查，并采用靶向二代测序（NGS）进行突变检测。完成了共分离和分析。
患者患有GCD。NGS在……的第4外显子中发现了一个已知的致病变体，c.371G>A（p.R124H）。该变体在家族中与表型共分离。纯合子患者表现出更严重的表型。在杂合子患者中观察到可变表达。
结果与先前的研究一致，表明TGFBI中的c.371G>A与GCD相关。一些表型变异与修饰基因、降低的外显率和环境影响等因素有关。
