Article
Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.
The Journal of pediatrics - 1 Feb 1998
Sirko-Osadsa D A, Murray M A, Scott J A, Lavery M A, Warman M L, Robin N H
Abstract excerpt
Eye involvement has been considered a principal component feature in Stickler syndrome. However, families lacking eye involvement have been reported. We describe such a family and show that their phenotype is due to a heterozygous 27 basepair deletion in the gene COL11A2, which encodes the alpha2...
Topics
- Child, Preschool
- Collagen
- Connective Tissue Diseases
- Exons
- Eye Diseases
- Female
- Gene Deletion
- Humans
- Male
- Mutation
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Sequence Analysis, DNA
- Syndrome