Article
High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.
Human mutation - 1 Jul 2006
Richards Allan J, Laidlaw Maureen, Whittaker Joanne, Treacy Becky, Rai Harjeet, Bearcroft Philip, Baguley David M, Poulson Arabella, Ang Alan, Scott John D, Snead Martin P
Abstract excerpt
Stickler syndrome is a genetically heterogeneous disorder that affects the ocular, skeletal, and auditory systems. To date three genes, COL2A1, COL11A1, and COL11A2, encoding the heterotypic type II/XI collagen fibrils present in vitreous and cartilage have been shown to have mutations that result in Stickler syndrome. As systemic features in this disorder are variable we have used an ophthalmic examination to...
Topics
- Adolescent
- Adult
- Base Sequence
- Child
- Child, Preschool
- Cleft Palate
- Collagen Type II
- DNA Mutational Analysis
- Exons
- Eye Diseases, Hereditary