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        Genomics Precision Diagnostic > Rare Disease Precision Panel > Stickler Syndrome Precision Panel

        Stickler Syndrome Precision Panel

        Stickler Syndrome (SS), also known as hereditary arthroophthalmopathy belongs to the group of connective tissue disorders together with Marshall syndrome, and so have overlapping characteristics.
        Overview
        Indication
        Clinical Utility
        Genes & Diseases
        Methodology
        References

        Overview

        • Stickler Syndrome (SS), also known as hereditary arthroophthalmopathy belongs to the group of connective tissue disorders together with Marshall syndrome, and so have overlapping characteristics. It is caused by mutations of genes in charge of the assembly of collagen. Since collagen is a major component of cartilage, vitreous and nucleus pulposus the clinical manifestations will affect these structures. Affected individuals are at significantly increased risk for retinal detachment and blindness, and early detection and diagnosis are critical in improving visual outcomes of these patients. The mode of inheritance varies from autosomal dominant, recessive and X-linked. 
        • The Igenomix Stickler Syndrome Precision Panel can be used to make a directed and accurate diagnosis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.  

        Indication

        • The Igenomix Stickler Syndrome Precision Panel is indicated for those patients with a clinical diagnosis or suspicion with or without the following manifestations: 
          • Orofacial abnormalities: midfacial underdevelopment and cleft palate 
          • Ophthalmologic abnormalities: myopia, cataract, retinal detachment 
          • Hearing loss 
          • Precocious arthritis  

        Clinical Utility

        The clinical utility of this panel is: 

        • The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.  
        • Early initiation of treatment with a multidisciplinary team in the form of surgical repair of orofacial abnormalities, retinal detachment, hearing and visual aids and symptomatic medical treatment for arthropathy. Early and continuous ophthalmologic examination follow-up to prevent further complications.  
        • Risk assessment of asymptomatic family members according to the mode of inheritance. 
        • Improvement of delineation of genotype-phenotype correlation.  

        Genes & Diseases

        Methodology

        References

        See scientific referrals

        Cervelli, V., Bottini, D., Grimaldi, M., Gentile, P., Caruso, R., & Gravante, G. (2008). The Stickler syndrome. A genetic disease with clinical implications for the plastic surgeon. Journal Of Plastic, Reconstructive & Aesthetic Surgery, 61(8), 987-988. doi: 10.1016/j.bjps.2007.11.059 

        Richards, A., McNinch, A., Martin, H., Oakhill, K., Rai, H., & Waller, S. et al. (2010). Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. Human Mutation, 31(6), E1461-E1471. doi: 10.1002/humu.21257 

        Stickler Syndrome. (2021). Retrieved 31 March 2021, from http://www.ncbi.nlm.nih.gov.ezp-prod1.hul.harvard.edu/books/NBK1302/ 

        Boothe, M., Morris, R., & Robin, N. (2020). Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation. Journal of personalized medicine, 10(3), 105. https://doi.org/10.3390/jpm10030105 

        Robin, N. H., Moran, R. T., & Ala-Kokko, L. (2000). Stickler Syndrome. In M. P. Adam (Eds.) et. al., GeneReviews®. University of Washington, Seattle. 

        Rishi, P., Maheshwari, A., & Rishi, E. (2015). Stickler syndrome. Indian journal of ophthalmology, 63(7), 614–615. https://doi.org/10.4103/0301-4738.167114 

        Aylward, B., daCruz, L., Ezra, E., Sullivan, P., MacLaren, R. E., Charteris, D., Gregor, Z., Bainbridge, J., & Minihan, M. (2008). Stickler syndrome. Ophthalmology, 115(9), 1636–1638. https://doi.org/10.1016/j.ophtha.2008.04.018 

         

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