Clinical Variability of Stickler Syndrome: Role of Exon 2 of the Collagen COL2A1 Gene

• Published in: Survey of ophthalmology Vol. 48; no. 2; pp. 191 - 203
• Main Authors: Donoso, Larry A, Edwards, Albert O, Frost, Arcilee T, Ritter, Robert, Ahmad, Nina, Vrabec, Tamara, Rogers, Jerry, Meyer, David, Parma, Scott
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.03.2003; Elsevier Science
• Subjects: alternative splicing; Biological and medical sciences; COL2A1; Collagen Type II - genetics; Complex syndromes; Connective Tissue Diseases - genetics; Connective Tissue Diseases - pathology; Diseases of the osteoarticular system; exon 2; Exons - genetics; Eye Diseases, Hereditary - genetics; Eye Diseases, Hereditary - pathology; genealogy; Humans; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical genetics; Medical sciences; mitral valve prolapse; Pedigree; Retinal Degeneration - genetics; Retinal Degeneration - pathology; retinal detachment; Stickler syndrome; stop codon; Syndrome; vitreoretinal degeneration; vitreous; Vitreous Body - pathology; Wagner syndrome; COL2A1; mitral valve prolapse; alternative splicing; vitreoretinal degeneration; stop codon; vitreous; Wagner syndrome; exon 2; retinal detachment; genealogy; Stickler syndrome; Retinal detachment; Retinopathy; Variability; Diseases of the osteoarticular system; Cardiovascular disease; Genetic determinism; Exon; Gene; Cardiac valvular disease; Osteochondrodysplasia; Human; Mitral valve; Family study; Wagner vitroretinal degeneration; Genetic disease; Prolapsus; Symptomatology; Eye disease; Phenotype; Collagen; Mutation

Stickler syndrome (progressive arthro-ophthalmopathy) is a genetically heterogeneous disorder resulting from mutations in at least three collagen genes. The most common disease-causing gene is COL2A1, a 54-exon–containing gene coding for type II collagen. At least 17 different mutations causing Stic...