• Evaluation of common COL2A1 gene variants in Iranian patients suspected with Stickler syndrome type I
  • Majid Hosseinzadeh,1 Fatemeh Abolhasani,2,* Hossein Abdali,3 Mohammad Kazemi,4
    1. Assistant Professor of Genetics Department of Genetics and Molecular Biology, School of Medicine Isfahan University of Medical Sciences, Isfahan, Iran.
    2. Master's student, Department of Genetics and Molecular Biology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
    3. Associate Professor of plastic & Reconstructive Surgery Department of Surgery, School of Medicine Craniofacial and Cleft Research Center Al-Zahra Hospital Isfahan University of Medical Sciences, Isfahan, Iran.
    4. Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.


  • Introduction: Stickler syndrome, also known as hereditary progressive arthro-ophthalmopathy, is a connective tissue disorder caused by mutation in several genes with distinct hereditary patterns. Stickler syndrome type I is an autosomal dominant inherited syndrome caused by mutations in COL2A1 gene (Stickler syndrome type I. The present study aims to investigate the common variants of the COL2A1 gene in patients suspected to be affected by Stickler syndrome type I.
  • Methods: The peripheral blood samples from 26 Iranian patients suspected to Stickler syndrome type I were collected in genetic lab at Alzahra university hospital (affiliated with Isfahan University of Medical Sciences) after Fillings Consent Form by these patients. Following DNA extraction, the PCR amplification was performed on selected exons and purified amplicons considered for Sanger sequenced. The common variants of the COL2A1 gene were studied on the relevant exons.
  • Results: Overall, two DNA variants and six polymorphisms were observed in the patients consist of: A heterozygous synonymous mutation (c.213C>T) in exon 2 and a heterozygous hot spot mutation (c.1030C>T) in exon 17
  • Conclusion: In this project a total of 26 patients suspected to Stickler syndrome type I were examined by DNA sanger sequencing which identified a pathogenic point mutation variant (c.1030C>T) in a single individual. Accurate genetic counseling is of paramount importance to reduce the chance of recurrence by guiding family planning decisions and encouraging prenatal testing. The diagnosis of a COL2A1 gene mutation can also significantly enhance disease management for affected individuals.
  • Keywords: Stickler syndrome type I, Hereditary Arthro-Ophthalmopathy, Stickler Syndrome vitreous type I