Evaluation of common COL2A1 gene variants in Iranian patients suspected with Stickler syndrome type I.

Background: Stickler syndrome, also known as hereditary progressive arthro-ophthalmopathy, is a connective tissue disorder that arises from mutations in multiple genes, each with distinct hereditary patterns. Stickler syndrome type I, which is inherited in an autosomal dominant manner, is specifically linked to mutations in the Materials and Methods: Twenty-six Iranian patients suspected of having Stickler syndrome type I referring to Al-Zahra Hospital of Isfahan were employed in this cross-sectional study. The DNA was extracted from the patient's peripheral blood samples, and the selected exons of the Results: All patients exhibit cleft abnormalities (palate, lip, and alveolar), 84.6% of patients exhibit ocular abnormalities, 53.8% of patients exhibit hearing abnormalities, and 34.6% of patients exhibit skeletal abnormalities. As the data displays, the highest phenotype presentation prevalence rate was related to cleft lip and palate, while hemiparesis was the lowest clinical finding among the patients. Molecular analysis which conducted to screen the Conclusion: Genetic analysis of Twenty-six unrelated families with Stickler syndrome type I disorder discovered one novel pathogenic variant in the