A NOVEL MUTATION IN INTRON 11 OF THE COL2A1 GENE IN A PATIENT WITH TYPE 1 STICKLER SYNDROME

摘要

Stickler syndrome is an autosomal dominant ar-throophthalmopathy characterized by congenital vitreous gel abnormalities and any three of the following: rhegmatogenous retinal detachment, paravascular pig-mented lattice degeneration, nonprogressive high myopia, joint hypermobility with or without radiologic evidence of joint degeneration, mild spondyloepiphyseal dysplasia, sensorineural hearing defect, and a midline cleft. Sticlder syndrome has been classified into two types. The type 1 phenotype, characterized by a membranous, vestigial retrolental vitreous membrane with an optically empty vitreous cavity, is more common, accounting for 75% of cases. The type 2 phenotype differs in that the vitreous appears "beaded." Studies have linked type 1 Stickler syndrome to mutations in the COL2A1 gene that encodes the a chain of collagen n, and type 2 Stickler syndrome is associated with mutations in the COL11A1 gene, which encodes for collagen XI.1 We describe an 8-year-old boy with type 1 Stickler syndrome. Genetic analysis showed a novel mutation in intron 11 of the COL2A1 gene.